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Gepubliceerd in: Journal of Autism and Developmental Disorders 3/2013

01-03-2013 | Original Paper

Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study

Auteurs: Flora Tassone, Nimrah S. Choudhary, Federica Tassone, Blythe Durbin-Johnson, Robin Hansen, Irva Hertz-Picciotto, Isaac Pessah

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2013

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Abstract

Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (>200 repeats) in the 5′UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD.
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Literatuur
go back to reference Aziz, M., Stathopulu, E., Callias, M., Taylor, C., Turk, J., Oostra, B., et al. (2003). Clinical features of boys with fragile X premutations and intermediate alleles. American Journal of Medical Genetics, 121B(1), 119–127.PubMedCrossRef Aziz, M., Stathopulu, E., Callias, M., Taylor, C., Turk, J., Oostra, B., et al. (2003). Clinical features of boys with fragile X premutations and intermediate alleles. American Journal of Medical Genetics, 121B(1), 119–127.PubMedCrossRef
go back to reference Bailey, A., Bolton, P., Butler, L., Le Couteur, A., Murphy, M., Scott, S., et al. (1993). Prevalence of the fragile X anomaly amongst autistic twins and singletons. J of Child Psychology and Psychiatry, 34(5), 673–688.CrossRef Bailey, A., Bolton, P., Butler, L., Le Couteur, A., Murphy, M., Scott, S., et al. (1993). Prevalence of the fragile X anomaly amongst autistic twins and singletons. J of Child Psychology and Psychiatry, 34(5), 673–688.CrossRef
go back to reference Bailey, D. B., Jr, Hatton, D. D., Mesibov, G. B., Ament, N., & Skinner, M. (2000). Early development, temperament and functional impairment in autism and fragile X syndrome. Journal of Autism and Developmental Disorders, 30(1), 49–59.PubMedCrossRef Bailey, D. B., Jr, Hatton, D. D., Mesibov, G. B., Ament, N., & Skinner, M. (2000). Early development, temperament and functional impairment in autism and fragile X syndrome. Journal of Autism and Developmental Disorders, 30(1), 49–59.PubMedCrossRef
go back to reference Bailey, D. B., Jr, Hatton, D. D., Skinner, M., & Mesibov, G. B. (2001). Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. Journal of Autism and Developmental Disorder, 31(2), 165–174.CrossRef Bailey, D. B., Jr, Hatton, D. D., Skinner, M., & Mesibov, G. B. (2001). Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. Journal of Autism and Developmental Disorder, 31(2), 165–174.CrossRef
go back to reference Bailey, D. B., Jr., Raspa, M., Olmsted, M., & Holiday, D. B. (2008). Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. American Journal of Medical Genetics, Part A, 146A(16), 2060–2069.CrossRef Bailey, D. B., Jr., Raspa, M., Olmsted, M., & Holiday, D. B. (2008). Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. American Journal of Medical Genetics, Part A, 146A(16), 2060–2069.CrossRef
go back to reference Biancalana, V., Beldjord, C., Taillandier, A., Szpiro-Tapia, S., Cusin, V., Gerson, F., et al. (2004). Five years of molecular diagnosis of Fragile X syndrome (1997–2001): A collaborative study reporting 95 % of the activity in France. American Journal of Medical Genetics, 129A(3), 218–224.PubMedCrossRef Biancalana, V., Beldjord, C., Taillandier, A., Szpiro-Tapia, S., Cusin, V., Gerson, F., et al. (2004). Five years of molecular diagnosis of Fragile X syndrome (1997–2001): A collaborative study reporting 95 % of the activity in France. American Journal of Medical Genetics, 129A(3), 218–224.PubMedCrossRef
go back to reference Blomquist, H. K., Bohman, M., Edvinsson, S. O., Gillberg, C., Gustavson, K. H., Holmgren, G., et al. (1985). Frequency of the fragile X syndrome in infantile autism: A Swedish multicenter study. Clinical Genetics, 27(2), 113–117.PubMedCrossRef Blomquist, H. K., Bohman, M., Edvinsson, S. O., Gillberg, C., Gustavson, K. H., Holmgren, G., et al. (1985). Frequency of the fragile X syndrome in infantile autism: A Swedish multicenter study. Clinical Genetics, 27(2), 113–117.PubMedCrossRef
go back to reference Bodega, B., Bione, S., Dalpra, L., Toniolo, D., Ornaghi, F., Vegetti, W., et al. (2006). Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Human Reproduction, 21(4), 952–957.PubMedCrossRef Bodega, B., Bione, S., Dalpra, L., Toniolo, D., Ornaghi, F., Vegetti, W., et al. (2006). Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Human Reproduction, 21(4), 952–957.PubMedCrossRef
go back to reference Bourgeois, J. A., Coffey, S. M., Rivera, S. M., Hessl, D., Gane, L. W., Tassone, F., et al. (2009). A review of fragile X premutation disorders: Expanding the psychiatric perspective. Journal of Clinical Psychiatry, 70(6), 852–862.PubMedCrossRef Bourgeois, J. A., Coffey, S. M., Rivera, S. M., Hessl, D., Gane, L. W., Tassone, F., et al. (2009). A review of fragile X premutation disorders: Expanding the psychiatric perspective. Journal of Clinical Psychiatry, 70(6), 852–862.PubMedCrossRef
go back to reference Bretherick, K. L., Fluker, M. R., & Robinson, W. P. (2005). FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Human Genetics, 117(4), 376–382.PubMedCrossRef Bretherick, K. L., Fluker, M. R., & Robinson, W. P. (2005). FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Human Genetics, 117(4), 376–382.PubMedCrossRef
go back to reference Brown, W. T., Jenkins, E. C., Cohen, I. L., Fisch, G. S., Wolf-Schein, E. G., Gross, A., et al. (1986). Fragile X and autism: A multicenter survey. American Journal of Medical Genetics, 23(1–2), 341–352.PubMedCrossRef Brown, W. T., Jenkins, E. C., Cohen, I. L., Fisch, G. S., Wolf-Schein, E. G., Gross, A., et al. (1986). Fragile X and autism: A multicenter survey. American Journal of Medical Genetics, 23(1–2), 341–352.PubMedCrossRef
go back to reference Chen, L., Hadd, A., Sah, S., Filipovic-Sadic, S., Krosting, J., Sekinger, E., et al. (2010). An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. Journal of Molecular Diagnostics, 12(5), 589–600.PubMedCrossRef Chen, L., Hadd, A., Sah, S., Filipovic-Sadic, S., Krosting, J., Sekinger, E., et al. (2010). An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. Journal of Molecular Diagnostics, 12(5), 589–600.PubMedCrossRef
go back to reference Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., & Hagerman, R. J. (2012). Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Human Genetics, 131(4), 581–589. doi:10.1007/s00439-011-1106-6 PubMedCrossRef Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., & Hagerman, R. J. (2012). Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Human Genetics, 131(4), 581–589. doi:10.​1007/​s00439-011-1106-6 PubMedCrossRef
go back to reference Clifford, S., Dissanayake, C., Bui, Q. M., Huggins, R., Taylor, A. K., & Loesch, D. Z. (2007). Autism spectrum phenotype in males and females with fragile X full mutation and premutation. Journal of Autism and Developmental Disorders, 37(4), 738–747.PubMedCrossRef Clifford, S., Dissanayake, C., Bui, Q. M., Huggins, R., Taylor, A. K., & Loesch, D. Z. (2007). Autism spectrum phenotype in males and females with fragile X full mutation and premutation. Journal of Autism and Developmental Disorders, 37(4), 738–747.PubMedCrossRef
go back to reference Cronister, A., Schreiner, R., Wittenberger, M., Amiri, K., Harris, K., & Hagerman, R. J. (1991). Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features. American Journal of Medical Genetics, 38(2–3), 269–274.PubMedCrossRef Cronister, A., Schreiner, R., Wittenberger, M., Amiri, K., Harris, K., & Hagerman, R. J. (1991). Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features. American Journal of Medical Genetics, 38(2–3), 269–274.PubMedCrossRef
go back to reference de Vries, B. B., Mohkamsing, S., van den Ouweland, A. M., Halley, D. J., Niermeijer, M. F., Oostra, B. A., et al. (1998). Screening with the FMR1 protein test among mentally retarded males. Human Genetics, 103(4), 520–522.PubMedCrossRef de Vries, B. B., Mohkamsing, S., van den Ouweland, A. M., Halley, D. J., Niermeijer, M. F., Oostra, B. A., et al. (1998). Screening with the FMR1 protein test among mentally retarded males. Human Genetics, 103(4), 520–522.PubMedCrossRef
go back to reference de Vries, B. B., van den Ouweland, A. M., Mohkamsing, S., Duivenvoorden, H. J., Mol, E., Gelsema, K., et al. (1997). Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Collaborative Fragile X Study Group. American Journal of Human Genetics, 61(3), 660–667.PubMedCrossRef de Vries, B. B., van den Ouweland, A. M., Mohkamsing, S., Duivenvoorden, H. J., Mol, E., Gelsema, K., et al. (1997). Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Collaborative Fragile X Study Group. American Journal of Human Genetics, 61(3), 660–667.PubMedCrossRef
go back to reference Dombrowski, C., Levesque, M. L., Morel, M. L., Rouillard, P., Morgan, K., & Rousseau, F. (2002). Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Human Molecular Genetics, 11(4), 371–378.PubMedCrossRef Dombrowski, C., Levesque, M. L., Morel, M. L., Rouillard, P., Morgan, K., & Rousseau, F. (2002). Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Human Molecular Genetics, 11(4), 371–378.PubMedCrossRef
go back to reference Farzin, F., Perry, H., Hessl, D., Loesch, D., Cohen, J., Bacalman, S., et al. (2006). Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. Journal of Developmental and Behavioral Pediatrics, 27(2 Suppl), S137–S144.PubMedCrossRef Farzin, F., Perry, H., Hessl, D., Loesch, D., Cohen, J., Bacalman, S., et al. (2006). Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. Journal of Developmental and Behavioral Pediatrics, 27(2 Suppl), S137–S144.PubMedCrossRef
go back to reference Fatemi, S. H., & Folsom, T. D. (2011). The role of fragile X mental retardation protein in major mental disorders. Neuropharmacology, 60(7–8), 1221–1226.PubMedCrossRef Fatemi, S. H., & Folsom, T. D. (2011). The role of fragile X mental retardation protein in major mental disorders. Neuropharmacology, 60(7–8), 1221–1226.PubMedCrossRef
go back to reference Fatemi, S. H., Kneeland, R. E., Liesch, S. B., & Folsom, T. D. (2010). Fragile X mental retardation protein levels are decreased in major psychiatric disorders. Schizophrenia Research, 124(1–3), 246–247.PubMedCrossRef Fatemi, S. H., Kneeland, R. E., Liesch, S. B., & Folsom, T. D. (2010). Fragile X mental retardation protein levels are decreased in major psychiatric disorders. Schizophrenia Research, 124(1–3), 246–247.PubMedCrossRef
go back to reference Fernandez-Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P. J., & Tassone, F. (2009). Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. Journal of Molecular Diagnostics, 11(4), 324–329.PubMedCrossRef Fernandez-Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P. J., & Tassone, F. (2009). Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. Journal of Molecular Diagnostics, 11(4), 324–329.PubMedCrossRef
go back to reference Filipovic-Sadic, S., Sah, S., Chen, L., Krosting, J., Sekinger, E., Zhang, W., et al. (2010). A novel FMR1 PCR method for the routine detection of low-abundance expanded alleles and full mutations in fragile X syndrome. Clinical Chemistry, 56(3), 399–408.PubMed Filipovic-Sadic, S., Sah, S., Chen, L., Krosting, J., Sekinger, E., Zhang, W., et al. (2010). A novel FMR1 PCR method for the routine detection of low-abundance expanded alleles and full mutations in fragile X syndrome. Clinical Chemistry, 56(3), 399–408.PubMed
go back to reference Fu, Y. H., Kuhl, D. P., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., et al. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell, 67(6), 1047–1058.PubMedCrossRef Fu, Y. H., Kuhl, D. P., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., et al. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell, 67(6), 1047–1058.PubMedCrossRef
go back to reference Garcia-Nonell, C., Ratera, E. R., Harris, S., Hessl, D., Ono, M. Y., Tartaglia, N., et al. (2008). Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. American Journal of Medical Genetics, Part A, 146A(15), 1911–1916.CrossRef Garcia-Nonell, C., Ratera, E. R., Harris, S., Hessl, D., Ono, M. Y., Tartaglia, N., et al. (2008). Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. American Journal of Medical Genetics, Part A, 146A(15), 1911–1916.CrossRef
go back to reference Haddad, L. A., Aguiar, M. J., Costa, S. S., Mingroni-Netto, R. C., Vianna-Morgante, A. M., & Pena, S. D. (1999). Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. American Journal of Medical Genetics, 84(3), 198–201.PubMedCrossRef Haddad, L. A., Aguiar, M. J., Costa, S. S., Mingroni-Netto, R. C., Vianna-Morgante, A. M., & Pena, S. D. (1999). Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. American Journal of Medical Genetics, 84(3), 198–201.PubMedCrossRef
go back to reference Hagerman, P. J. (2002). Gene expression and molecular approaches to therapy. In R. J. Hagerman & P. J. Hagerman (Eds.), Fragile X syndrome: Diagnosis, treatment and research (3rd ed.). Baltimore, MD: The Johns Hopkins University Press. Hagerman, P. J. (2002). Gene expression and molecular approaches to therapy. In R. J. Hagerman & P. J. Hagerman (Eds.), Fragile X syndrome: Diagnosis, treatment and research (3rd ed.). Baltimore, MD: The Johns Hopkins University Press.
go back to reference Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., et al. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127–130.PubMedCrossRef Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., et al. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127–130.PubMedCrossRef
go back to reference Hagerman, R. J., Rivera, S. M., & Hagerman, P. J. (2008). The fragile X family of disorders: A model for autism and targeted treatments. Current Pediatric Reviews, 4, 40–52.CrossRef Hagerman, R. J., Rivera, S. M., & Hagerman, P. J. (2008). The fragile X family of disorders: A model for autism and targeted treatments. Current Pediatric Reviews, 4, 40–52.CrossRef
go back to reference Hall, D. A., Berry-Kravis, E., Zhang, W., Tassone, F., Spector, E., Zerbe, G., et al. (2011). FMR1 gray-zone alleles: association with Parkinson’s disease in women? Movement Disorders: Official Journal of the Movement Disorder Society, 26(10), 1900–1906.CrossRef Hall, D. A., Berry-Kravis, E., Zhang, W., Tassone, F., Spector, E., Zerbe, G., et al. (2011). FMR1 gray-zone alleles: association with Parkinson’s disease in women? Movement Disorders: Official Journal of the Movement Disorder Society, 26(10), 1900–1906.CrossRef
go back to reference Harris, S. W., Hessl, D., Goodlin-Jones, B., Ferranti, J., Bacalman, S., Barbato, I., et al. (2008). Autism profiles of males with fragile X syndrome. American Journal of Mental Retardation, 113(6), 427–438.PubMedCrossRef Harris, S. W., Hessl, D., Goodlin-Jones, B., Ferranti, J., Bacalman, S., Barbato, I., et al. (2008). Autism profiles of males with fragile X syndrome. American Journal of Mental Retardation, 113(6), 427–438.PubMedCrossRef
go back to reference Hatton, D., Bailey, D. B., Roberts, J., Skinner, M., Mayher, L., Duffee Clark, R., et al. (2000). Early intervention services for young boys with fragile X syndrome. Journal of Early Intervention, 23(4), 235–251.CrossRef Hatton, D., Bailey, D. B., Roberts, J., Skinner, M., Mayher, L., Duffee Clark, R., et al. (2000). Early intervention services for young boys with fragile X syndrome. Journal of Early Intervention, 23(4), 235–251.CrossRef
go back to reference Hatton, D. D., Sideris, J., Skinner, M., Mankowski, J., Bailey, D. B., Jr, Roberts, J. E., et al. (2006). Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. American Journal of Medical Genetics, Part A, 140(17), 1804–1813.CrossRef Hatton, D. D., Sideris, J., Skinner, M., Mankowski, J., Bailey, D. B., Jr, Roberts, J. E., et al. (2006). Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. American Journal of Medical Genetics, Part A, 140(17), 1804–1813.CrossRef
go back to reference Hecimovic, S., Tarnik, I. P., Baric, I., Cakarun, Z., & Pavelic, K. (2002). Screening for fragile X syndrome: Results from a school for mentally retarded children. Acta Paediatrica, 91(5), 535–539.PubMedCrossRef Hecimovic, S., Tarnik, I. P., Baric, I., Cakarun, Z., & Pavelic, K. (2002). Screening for fragile X syndrome: Results from a school for mentally retarded children. Acta Paediatrica, 91(5), 535–539.PubMedCrossRef
go back to reference Hertz-Picciotto, I., Croen, L. A., Hansen, R., Jones, C. R., van de Water, J., & Pessah, I. N. (2006). The CHARGE study: An epidemiologic investigation of genetic and environmental factors contributing to autism. Environmental Health Perspectives, 114(7), 1119–1125.PubMedCrossRef Hertz-Picciotto, I., Croen, L. A., Hansen, R., Jones, C. R., van de Water, J., & Pessah, I. N. (2006). The CHARGE study: An epidemiologic investigation of genetic and environmental factors contributing to autism. Environmental Health Perspectives, 114(7), 1119–1125.PubMedCrossRef
go back to reference Hessl, D., Tassone, F., Loesch, D. Z., Berry-Kravis, E., Leehey, M. A., Gane, L. W., et al. (2005). Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. American Journal of Medical Genetics Part B Neuropsychiatric Genetics, 139(1), 115–121.CrossRef Hessl, D., Tassone, F., Loesch, D. Z., Berry-Kravis, E., Leehey, M. A., Gane, L. W., et al. (2005). Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. American Journal of Medical Genetics Part B Neuropsychiatric Genetics, 139(1), 115–121.CrossRef
go back to reference Iong, K., Tong, T., Gane, L., Sorensen, P., Berry-Kravis, E., Nguyen, D., Mu, Y., Skinner, D., Bailey, D., Hagerman, R., & Tassone, F. (2011). Newborn screening in fragile X syndrome: prevalence and allele distribution of the FMR1 gene. Paper presented at the American College Medical Genetics, Vancouver. Iong, K., Tong, T., Gane, L., Sorensen, P., Berry-Kravis, E., Nguyen, D., Mu, Y., Skinner, D., Bailey, D., Hagerman, R., & Tassone, F. (2011). Newborn screening in fragile X syndrome: prevalence and allele distribution of the FMR1 gene. Paper presented at the American College Medical Genetics, Vancouver.
go back to reference Jacquemont, S., Hagerman, R. J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J. A., et al. (2003). Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics, 72(4), 869–878.PubMedCrossRef Jacquemont, S., Hagerman, R. J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J. A., et al. (2003). Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics, 72(4), 869–878.PubMedCrossRef
go back to reference Kau, A. S. M., Tierney, E., Bukelis, I., Stump, M. H., Kates, W. R., Trescher, W. H., et al. (2004). Social behavior profile in young males with fragile X syndrome: Characteristics and specificity. American Journal of Medical Genetics, 126A, 9–17.PubMedCrossRef Kau, A. S. M., Tierney, E., Bukelis, I., Stump, M. H., Kates, W. R., Trescher, W. H., et al. (2004). Social behavior profile in young males with fragile X syndrome: Characteristics and specificity. American Journal of Medical Genetics, 126A, 9–17.PubMedCrossRef
go back to reference Lachiewicz, A. M., & Dawson, D. V. (1994). Behavior problems of young girls with fragile X syndrome: Factor scores on the Conners’ Parent’s Questionnaire. American Journal of Medical Genetics, 51(4), 364–369.PubMedCrossRef Lachiewicz, A. M., & Dawson, D. V. (1994). Behavior problems of young girls with fragile X syndrome: Factor scores on the Conners’ Parent’s Questionnaire. American Journal of Medical Genetics, 51(4), 364–369.PubMedCrossRef
go back to reference Lewis, P., Abbeduto, L., Murphy, M., Richmond, E., Giles, N., Bruno, L., et al. (2006). Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism. Journal of Intellectual Disability Research, 50(Pt 7), 532–545.PubMedCrossRef Lewis, P., Abbeduto, L., Murphy, M., Richmond, E., Giles, N., Bruno, L., et al. (2006). Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism. Journal of Intellectual Disability Research, 50(Pt 7), 532–545.PubMedCrossRef
go back to reference Loesch, D. Z., Bui, Q. M., Dissanayake, C., Clifford, S., Gould, E., Bulhak-Paterson, D., et al. (2007). Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neuroscience and Biobehavioral Reviews, 31(3), 315–326.PubMedCrossRef Loesch, D. Z., Bui, Q. M., Dissanayake, C., Clifford, S., Gould, E., Bulhak-Paterson, D., et al. (2007). Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neuroscience and Biobehavioral Reviews, 31(3), 315–326.PubMedCrossRef
go back to reference Loesch, D. Z., Godler, D. E., Khaniani, M., Gould, E., Gehling, F., Dissanayake, C., et al. (2009). Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms. American Journal of Medical Genetics, Part A, 149A(10), 2306–2310.CrossRef Loesch, D. Z., Godler, D. E., Khaniani, M., Gould, E., Gehling, F., Dissanayake, C., et al. (2009). Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms. American Journal of Medical Genetics, Part A, 149A(10), 2306–2310.CrossRef
go back to reference Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Jr, Leventhal, B. L., DiLavore, P. C., et al. (2000). The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorder, 30(3), 205–223.CrossRef Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Jr, Leventhal, B. L., DiLavore, P. C., et al. (2000). The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorder, 30(3), 205–223.CrossRef
go back to reference Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24(5), 659–685.PubMedCrossRef Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24(5), 659–685.PubMedCrossRef
go back to reference Maddalena, A., Richards, C. S., McGinniss, M. J., Brothman, A., Desnick, R. J., Grier, R. E., et al. (2001). Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genetic Medicine, 3(3), 200–205.CrossRef Maddalena, A., Richards, C. S., McGinniss, M. J., Brothman, A., Desnick, R. J., Grier, R. E., et al. (2001). Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genetic Medicine, 3(3), 200–205.CrossRef
go back to reference Major, T., Culjkovic, B., Stojkovic, O., Gucscekic, M., Lakic, A., & Romac, S. (2003). Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation. Journal of Neurogenetics, 17(2–3), 223–230.PubMed Major, T., Culjkovic, B., Stojkovic, O., Gucscekic, M., Lakic, A., & Romac, S. (2003). Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation. Journal of Neurogenetics, 17(2–3), 223–230.PubMed
go back to reference Mazzocco, M. M., Kates, W. R., Baumgardner, T. L., Freund, L. S., & Reiss, A. L. (1997). Autistic behaviors among girls with fragile X syndrome. Journal of Autism and Developmental Disorder, 27(4), 415–435.CrossRef Mazzocco, M. M., Kates, W. R., Baumgardner, T. L., Freund, L. S., & Reiss, A. L. (1997). Autistic behaviors among girls with fragile X syndrome. Journal of Autism and Developmental Disorder, 27(4), 415–435.CrossRef
go back to reference Mila, M., Sanchez, A., Badenas, C., Brun, C., Jimenez, D., Villa, M. P., et al. (1997). Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: Identification of a case of FRAXE-associated mental retardation. Human Genetics, 100, 503–507.PubMedCrossRef Mila, M., Sanchez, A., Badenas, C., Brun, C., Jimenez, D., Villa, M. P., et al. (1997). Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: Identification of a case of FRAXE-associated mental retardation. Human Genetics, 100, 503–507.PubMedCrossRef
go back to reference Miller, L. J., McIntosh, D. N., McGrath, J., Shyu, V., Lampe, M., Taylor, A. K., et al. (1999). Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: A preliminary report. American Journal of Medical Genetics, 83(4), 268–279.PubMedCrossRef Miller, L. J., McIntosh, D. N., McGrath, J., Shyu, V., Lampe, M., Taylor, A. K., et al. (1999). Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: A preliminary report. American Journal of Medical Genetics, 83(4), 268–279.PubMedCrossRef
go back to reference Mullen, E. M. (1995). Mullen Scales of Early Learning. Circle Pines: American Guidance Service. Mullen, E. M. (1995). Mullen Scales of Early Learning. Circle Pines: American Guidance Service.
go back to reference Murray, A., Youings, S., Dennis, N., Latsky, L., Linehan, P., McKechnie, N., et al. (1996). Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers. Human Molecular Genetics, 5(6), 727–735.PubMedCrossRef Murray, A., Youings, S., Dennis, N., Latsky, L., Linehan, P., McKechnie, N., et al. (1996). Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers. Human Molecular Genetics, 5(6), 727–735.PubMedCrossRef
go back to reference Pandey, U. B., Phadke, S., & Mittal, B. (2002). Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation. Genetic Testing, 6(4), 335–339.PubMedCrossRef Pandey, U. B., Phadke, S., & Mittal, B. (2002). Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation. Genetic Testing, 6(4), 335–339.PubMedCrossRef
go back to reference Patsalis, P. C., Sismani, C., Hettinger, J. A., Boumba, I., Georgiou, I., Stylianidou, G., et al. (1999). Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability. American Journal of Medical Genetics, 84(3), 184–190.PubMedCrossRef Patsalis, P. C., Sismani, C., Hettinger, J. A., Boumba, I., Georgiou, I., Stylianidou, G., et al. (1999). Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability. American Journal of Medical Genetics, 84(3), 184–190.PubMedCrossRef
go back to reference Pieretti, M., Zhang, F. P., Fu, Y. H., Warren, S. T., Oostra, B. A., Caskey, C. T., et al. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66(4), 817–822.PubMedCrossRef Pieretti, M., Zhang, F. P., Fu, Y. H., Warren, S. T., Oostra, B. A., Caskey, C. T., et al. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66(4), 817–822.PubMedCrossRef
go back to reference Pouya, A. R., Abedini, S. S., Mansoorian, N., Behjati, F., Nikzat, N., Mohseni, M., et al. (2009). Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. European Journal of Medical Genetics, 52(4), 170–173.PubMedCrossRef Pouya, A. R., Abedini, S. S., Mansoorian, N., Behjati, F., Nikzat, N., Mohseni, M., et al. (2009). Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. European Journal of Medical Genetics, 52(4), 170–173.PubMedCrossRef
go back to reference Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Medical Genetics, 6(1), 3.PubMedCrossRef Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Medical Genetics, 6(1), 3.PubMedCrossRef
go back to reference Roberts, J. E., Bailey, D. B., Jr, Mankowski, J., Ford, A., Sideris, J., Weisenfeld, L. A., et al. (2009). Mood and anxiety disorders in females with the FMR1 premutation. American Journal of Medical Genetics, Part B Neuropsychiatric Genetics, 150B(1), 130–139.CrossRef Roberts, J. E., Bailey, D. B., Jr, Mankowski, J., Ford, A., Sideris, J., Weisenfeld, L. A., et al. (2009). Mood and anxiety disorders in females with the FMR1 premutation. American Journal of Medical Genetics, Part B Neuropsychiatric Genetics, 150B(1), 130–139.CrossRef
go back to reference Rogers, S. J., Wehner, E. A., & Hagerman, R. J. (2001). The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. Journal of Developmental and Behavioral Pediatrics, 22(6), 409–417.PubMedCrossRef Rogers, S. J., Wehner, E. A., & Hagerman, R. J. (2001). The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. Journal of Developmental and Behavioral Pediatrics, 22(6), 409–417.PubMedCrossRef
go back to reference Rousseau, F., Rouillard, P., Morel, M. L., Khandjian, E. W., & Morgan, K. (1995). Prevalence of carriers of premutation-size alleles of the FMRI gene—and implications for the population genetics of the fragile X syndrome. American Journal of Human Genetics, 57(5), 1006–1018.PubMed Rousseau, F., Rouillard, P., Morel, M. L., Khandjian, E. W., & Morgan, K. (1995). Prevalence of carriers of premutation-size alleles of the FMRI gene—and implications for the population genetics of the fragile X syndrome. American Journal of Human Genetics, 57(5), 1006–1018.PubMed
go back to reference Rutter, M., Bailey, A., Berument, S. K., Lord, C., & Pickles, A. (2003). Social Communication Questionnaire (SCQ). Los Angeles: Western Psychological Services. Rutter, M., Bailey, A., Berument, S. K., Lord, C., & Pickles, A. (2003). Social Communication Questionnaire (SCQ). Los Angeles: Western Psychological Services.
go back to reference Schaefer, G. B., & Lutz, R. E. (2006). Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genetic Medicine, 8(9), 549–556. Schaefer, G. B., & Lutz, R. E. (2006). Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genetic Medicine, 8(9), 549–556.
go back to reference Sharma, D., Gupta, M., & Thelma, B. K. (2001). Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genetic Epidemiology, 20(1), 129–144.PubMedCrossRef Sharma, D., Gupta, M., & Thelma, B. K. (2001). Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genetic Epidemiology, 20(1), 129–144.PubMedCrossRef
go back to reference Sherman, S. L. (2000). Premature ovarian failure in the fragile X syndrome. American Journal of Medical Genetics (Seminars in Medical Genetics), 97(3), 189–194.CrossRef Sherman, S. L. (2000). Premature ovarian failure in the fragile X syndrome. American Journal of Medical Genetics (Seminars in Medical Genetics), 97(3), 189–194.CrossRef
go back to reference Sparrow, S. S., Balla, D. A., & Cicchetti, D. V. (1984). Vineland Adaptive Behavior Scales Survey Form Manual. Circle Pines: American Guidance Service. Sparrow, S. S., Balla, D. A., & Cicchetti, D. V. (1984). Vineland Adaptive Behavior Scales Survey Form Manual. Circle Pines: American Guidance Service.
go back to reference Sudhalter, V., Cohen, I. L., Silverman, W., & Wolf-Schein, E. G. (1990). Conversational analyses of males with fragile X, Down syndrome, and autism: Comparison of the emergence of deviant language. American Journal of Mental Retardation, 94(4), 431–441.PubMed Sudhalter, V., Cohen, I. L., Silverman, W., & Wolf-Schein, E. G. (1990). Conversational analyses of males with fragile X, Down syndrome, and autism: Comparison of the emergence of deviant language. American Journal of Mental Retardation, 94(4), 431–441.PubMed
go back to reference Sullivan, A. K., Crawford, D. C., Scott, E. H., Leslie, M. L., & Sherman, S. L. (2002). Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. American Journal of Human Genetics, 70(6), 1532–1544.PubMedCrossRef Sullivan, A. K., Crawford, D. C., Scott, E. H., Leslie, M. L., & Sherman, S. L. (2002). Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. American Journal of Human Genetics, 70(6), 1532–1544.PubMedCrossRef
go back to reference Sullivan, A. K., Marcus, M., Epstein, M. P., Allen, E. G., Anido, A. E., Paquin, J. J., et al. (2005). Association of FMR1 repeat size with ovarian dysfunction. Human Reproduction, 20(2), 402–412.PubMedCrossRef Sullivan, A. K., Marcus, M., Epstein, M. P., Allen, E. G., Anido, A. E., Paquin, J. J., et al. (2005). Association of FMR1 repeat size with ovarian dysfunction. Human Reproduction, 20(2), 402–412.PubMedCrossRef
go back to reference Syrrou, M., Georgiou, I., Grigoriadou, M., Petersen, M. B., Kitsiou, S., Pagoulatos, G., et al. (1998). FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population. Genetic Epidemiology, 15(1), 103–109.PubMedCrossRef Syrrou, M., Georgiou, I., Grigoriadou, M., Petersen, M. B., Kitsiou, S., Pagoulatos, G., et al. (1998). FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population. Genetic Epidemiology, 15(1), 103–109.PubMedCrossRef
go back to reference Tassone, F., Hagerman, R. J., Chamberlain, W. D., & Hagerman, P. J. (2000). Transcription of the FMR1 gene in individuals with fragile X syndrome. American Journal of Medical Genetics (Seminars in Medical Genetics), 97(3), 195–203.CrossRef Tassone, F., Hagerman, R. J., Chamberlain, W. D., & Hagerman, P. J. (2000). Transcription of the FMR1 gene in individuals with fragile X syndrome. American Journal of Medical Genetics (Seminars in Medical Genetics), 97(3), 195–203.CrossRef
go back to reference Tassone, F., Pan, R., Amiri, K., Taylor, A. K., & Hagerman, P. J. (2008). A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. Journal of Molecular Diagnostics, 10(1), 43–49.PubMedCrossRef Tassone, F., Pan, R., Amiri, K., Taylor, A. K., & Hagerman, P. J. (2008). A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. Journal of Molecular Diagnostics, 10(1), 43–49.PubMedCrossRef
go back to reference Toledano-Alhadef, H., Basel-Vanagaite, L., Magal, N., Davidov, B., Ehrlich, S., Drasinover, V., et al. (2001). Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. American Journal of Human Genetics, 69(2), 351–360.PubMedCrossRef Toledano-Alhadef, H., Basel-Vanagaite, L., Magal, N., Davidov, B., Ehrlich, S., Drasinover, V., et al. (2001). Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. American Journal of Human Genetics, 69(2), 351–360.PubMedCrossRef
go back to reference Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65(5), 905–914.PubMedCrossRef Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65(5), 905–914.PubMedCrossRef
go back to reference Watson, M. S., Breg, W. R., Hobbins, J. C., & Mahoney, M. J. (1984). Cytogenetic diagnosis using midtrimester fetal blood samples: Application to suspected mosaicism and other diagnostic problems. American Journal of Medical Genetics, 19(4), 805–813.PubMedCrossRef Watson, M. S., Breg, W. R., Hobbins, J. C., & Mahoney, M. J. (1984). Cytogenetic diagnosis using midtrimester fetal blood samples: Application to suspected mosaicism and other diagnostic problems. American Journal of Medical Genetics, 19(4), 805–813.PubMedCrossRef
go back to reference Wittenberger, M. D., Hagerman, R. J., Sherman, S. L., McConkie-Rosell, A., Welt, C. K., Rebar, R. W., et al. (2007). The FMR1 premutation and reproduction. Fertility and Sterility, 87(3), 456–465.PubMedCrossRef Wittenberger, M. D., Hagerman, R. J., Sherman, S. L., McConkie-Rosell, A., Welt, C. K., Rebar, R. W., et al. (2007). The FMR1 premutation and reproduction. Fertility and Sterility, 87(3), 456–465.PubMedCrossRef
go back to reference Yrigollen, C. M., Durbin-Johnson, B., Gane, L., Nelson, D. L., Hagerman, R., Hagerman, P. J., & Tassone, F. (2012). AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genetics in Medicine. doi:10.1038/gim.2012.34 Yrigollen, C. M., Durbin-Johnson, B., Gane, L., Nelson, D. L., Hagerman, R., Hagerman, P. J., & Tassone, F. (2012). AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genetics in Medicine. doi:10.​1038/​gim.​2012.​34
go back to reference Yrigollen, C. M., Tassone, F., & Durbin-Johnson, B. (2011). The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS One, 6(7), e21728.PubMedCrossRef Yrigollen, C. M., Tassone, F., & Durbin-Johnson, B. (2011). The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS One, 6(7), e21728.PubMedCrossRef
go back to reference Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., et al. (1991). Fragile X genotype characterized by an unstable region of DNA. Science, 252(5010), 1179–1181.CrossRef Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., et al. (1991). Fragile X genotype characterized by an unstable region of DNA. Science, 252(5010), 1179–1181.CrossRef
go back to reference Yuhas, J., Walichiewicz, P., Pan, R., Zhang, W., Casillas, E. M., Hagerman, R. J., et al. (2009). High-risk fragile x screening in Guatemala: Use of a new blood spot polymerase chain reaction technique. Genetic Testing and Molecular Biomarkers, 13(6), 855–859.PubMedCrossRef Yuhas, J., Walichiewicz, P., Pan, R., Zhang, W., Casillas, E. M., Hagerman, R. J., et al. (2009). High-risk fragile x screening in Guatemala: Use of a new blood spot polymerase chain reaction technique. Genetic Testing and Molecular Biomarkers, 13(6), 855–859.PubMedCrossRef
Metagegevens
Titel
Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study
Auteurs
Flora Tassone
Nimrah S. Choudhary
Federica Tassone
Blythe Durbin-Johnson
Robin Hansen
Irva Hertz-Picciotto
Isaac Pessah
Publicatiedatum
01-03-2013
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 3/2013
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-012-1580-2

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