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20-05-2022 | Brief Report

Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report

Auteurs: María-Pilar López-Garrido, María-Carmen Carrascosa-Romero, Minerva Montero-Hernández, Jesús Ruiz-Almansa, Francisco Sánchez-Sánchez

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 1/2024

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Abstract

ATRX mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic manifestations like facial dimorphism, hypotonia, microcephaly, skeletal abnormalities or urogenital malformations have been frequently observed in ATR-X syndrome. Herein, we report a missense ATRX mutation (Thr1621Met) in a patient with an autism spectrum disorder (ASD) diagnosis. Except for ID, no typical signs of ATR-X syndrome were found in the patient. These results confirm the extensive phenotypic variability associated to ATRX mutations and show the involvement of this gene in the ASD.
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Literatuur
go back to reference Adzhubei, I. A., Schmidt, S., Peshkin, L., et al. (2010). A method and server for predicting damaging missense mutations. Nature Methods, 7(4), 248–249.CrossRefPubMedPubMedCentral Adzhubei, I. A., Schmidt, S., Peshkin, L., et al. (2010). A method and server for predicting damaging missense mutations. Nature Methods, 7(4), 248–249.CrossRefPubMedPubMedCentral
go back to reference Badens, C., Lacoste, C., Philip, N., et al. (2006). Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Clinical Genetics, 70(1), 57–62.CrossRefPubMed Badens, C., Lacoste, C., Philip, N., et al. (2006). Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Clinical Genetics, 70(1), 57–62.CrossRefPubMed
go back to reference Basehore, M. J., Michaelson-Cohen, R., Levy-Lahad, E., et al. (2015). Alpha-thalassemia intellectual disability: Variable phenotypic expression among males with a recurrent nonsense mutation. Clinical Genetics, 87(5), 461–466.CrossRefPubMed Basehore, M. J., Michaelson-Cohen, R., Levy-Lahad, E., et al. (2015). Alpha-thalassemia intellectual disability: Variable phenotypic expression among males with a recurrent nonsense mutation. Clinical Genetics, 87(5), 461–466.CrossRefPubMed
go back to reference Battle, D. E. (2013). Diagnostic and statistical manual of mental disorders (DSM). Codas, 25(2), 191–192.PubMed Battle, D. E. (2013). Diagnostic and statistical manual of mental disorders (DSM). Codas, 25(2), 191–192.PubMed
go back to reference Bienz, M. (2006). The PHD finger, a nuclear protein-interaction domain. Trends in Biochemical Sciences, 31(1), 35–40.CrossRefPubMed Bienz, M. (2006). The PHD finger, a nuclear protein-interaction domain. Trends in Biochemical Sciences, 31(1), 35–40.CrossRefPubMed
go back to reference Bouazzi, H., Thakur, S., Trujillo, C., Alwasiyah, M. K., & Munnich, A. (2016). Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia. Indian Journal of Medical Research, 143(1), 43–48.CrossRefPubMedPubMedCentral Bouazzi, H., Thakur, S., Trujillo, C., Alwasiyah, M. K., & Munnich, A. (2016). Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia. Indian Journal of Medical Research, 143(1), 43–48.CrossRefPubMedPubMedCentral
go back to reference Bourgeron, T. (2015). From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nature Reviews Neuroscience, 16(9), 551–563.CrossRefPubMed Bourgeron, T. (2015). From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nature Reviews Neuroscience, 16(9), 551–563.CrossRefPubMed
go back to reference Carrascosa-Romero, M. C., & De Cabo-De La Vega, C. (2017). The genetic and epigenetic basis involved in the pathophysiology of ASD: Therapeutic implications. In M. Fitzgerald & J. Yip (Eds.), Autism—Paradigms, recent research and clinical application (pp. 115–182). InTech Open. Carrascosa-Romero, M. C., & De Cabo-De La Vega, C. (2017). The genetic and epigenetic basis involved in the pathophysiology of ASD: Therapeutic implications. In M. Fitzgerald & J. Yip (Eds.), Autism—Paradigms, recent research and clinical application (pp. 115–182). InTech Open.
go back to reference Choi, Y., & Chan, A. P. (2015). PROVEAN web server: A tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics, 31(16), 2745–2747.CrossRefPubMedPubMedCentral Choi, Y., & Chan, A. P. (2015). PROVEAN web server: A tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics, 31(16), 2745–2747.CrossRefPubMedPubMedCentral
go back to reference Gibbons, R. J., McDowell, T. L., Raman, S., et al. (2000). Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nature Genetics, 24(4), 368–371.CrossRefPubMed Gibbons, R. J., McDowell, T. L., Raman, S., et al. (2000). Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nature Genetics, 24(4), 368–371.CrossRefPubMed
go back to reference Gibbons, R. J., Wada, T., Fisher, C. A., et al. (2008). Mutations in the chromatin-associated protein ATRX. Human Mutation, 29(6), 796–802.CrossRefPubMed Gibbons, R. J., Wada, T., Fisher, C. A., et al. (2008). Mutations in the chromatin-associated protein ATRX. Human Mutation, 29(6), 796–802.CrossRefPubMed
go back to reference Gong, X., Bacchelli, E., Blasi, F., et al. (2008). Analysis of X chromosome inactivation in autism spectrum disorders. American Journal of Medical Genetics. Part b, Neuropsychiatric Genetics, 147B(6), 830–835.CrossRef Gong, X., Bacchelli, E., Blasi, F., et al. (2008). Analysis of X chromosome inactivation in autism spectrum disorders. American Journal of Medical Genetics. Part b, Neuropsychiatric Genetics, 147B(6), 830–835.CrossRef
go back to reference Guerrini, R., Shanahan, J. L., Carrozzo, R., Bonanni, P., Higgs, D. R., & Gibbons, R. J. (2000). A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. Annals of Neurology, 47(1), 117–121.CrossRefPubMed Guerrini, R., Shanahan, J. L., Carrozzo, R., Bonanni, P., Higgs, D. R., & Gibbons, R. J. (2000). A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. Annals of Neurology, 47(1), 117–121.CrossRefPubMed
go back to reference Hamzeh, A. R., Nair, P., Mohamed, M., et al. (2016). A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. Irish Journal of Medical Science, 186, 333–337.CrossRefPubMed Hamzeh, A. R., Nair, P., Mohamed, M., et al. (2016). A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. Irish Journal of Medical Science, 186, 333–337.CrossRefPubMed
go back to reference Jensen, L. R., Chen, W., Moser, B., et al. (2011). Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. European Journal of Human Genetics, 19(6), 717–720.CrossRefPubMedPubMedCentral Jensen, L. R., Chen, W., Moser, B., et al. (2011). Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. European Journal of Human Genetics, 19(6), 717–720.CrossRefPubMedPubMedCentral
go back to reference Kubota, T., & Mochizuki, K. (2016). Epigenetic effect of environmental factors on autism spectrum disorders. International Journal of Environmental Research and Public Health, 13(5), 504.CrossRefPubMedPubMedCentral Kubota, T., & Mochizuki, K. (2016). Epigenetic effect of environmental factors on autism spectrum disorders. International Journal of Environmental Research and Public Health, 13(5), 504.CrossRefPubMedPubMedCentral
go back to reference Li, J., Wang, L., Guo, H., Shi, L., Zhang, K., Tang, M., Hu, S., Dong, S., Liu, Y., Wang, T., Yu, P., He, X., Hu, Z., Zhao, J., Liu, C., Sun, Z. S., & Xia, K. (2017). Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Molecular Psychiatry, 22(9), 1282–1290.CrossRefPubMed Li, J., Wang, L., Guo, H., Shi, L., Zhang, K., Tang, M., Hu, S., Dong, S., Liu, Y., Wang, T., Yu, P., He, X., Hu, Z., Zhao, J., Liu, C., Sun, Z. S., & Xia, K. (2017). Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Molecular Psychiatry, 22(9), 1282–1290.CrossRefPubMed
go back to reference Mi, H., Muruganujan, A., Ebert, D., Huang, X., & Thomas, P. D. (2019). PANTHER version 14: More genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools. Nucleic Acids Research, 47(D1), D419–D426.CrossRefPubMed Mi, H., Muruganujan, A., Ebert, D., Huang, X., & Thomas, P. D. (2019). PANTHER version 14: More genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools. Nucleic Acids Research, 47(D1), D419–D426.CrossRefPubMed
go back to reference Mitson, M., Kelley, L. A., Sternberg, M. J., Higgs, D. R., & Gibbons, R. J. (2011). Functional significance of mutations in the Snf2 domain of ATRX. Human Molecular Genetics, 20(13), 2603–2610.CrossRefPubMed Mitson, M., Kelley, L. A., Sternberg, M. J., Higgs, D. R., & Gibbons, R. J. (2011). Functional significance of mutations in the Snf2 domain of ATRX. Human Molecular Genetics, 20(13), 2603–2610.CrossRefPubMed
go back to reference Moncini, S., Bedeschi, M. F., Castronovo, P., et al. (2013). ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing. Meta Gene, 1, 102–108.CrossRefPubMedPubMedCentral Moncini, S., Bedeschi, M. F., Castronovo, P., et al. (2013). ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing. Meta Gene, 1, 102–108.CrossRefPubMedPubMedCentral
go back to reference Munnich, A., Demily, C., Frugère, L., Duwime, C., Malan, V., Barcia, G., Vidal, C., Throo, E., Besmond, C., Hubert, L., Roland-Manuel, G., Malen, J. P., Ferreri, M., Hanein, S., Thalabard, J. C., Boddaert, N., & Assouline, M. (2019). Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. Molecular Autism, 10, 33.CrossRefPubMedPubMedCentral Munnich, A., Demily, C., Frugère, L., Duwime, C., Malan, V., Barcia, G., Vidal, C., Throo, E., Besmond, C., Hubert, L., Roland-Manuel, G., Malen, J. P., Ferreri, M., Hanein, S., Thalabard, J. C., Boddaert, N., & Assouline, M. (2019). Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. Molecular Autism, 10, 33.CrossRefPubMedPubMedCentral
go back to reference Nan, X., Hou, J., Maclean, A., et al. (2007). Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proceedings of the National Academy of Sciences of the United States of America, 104(8), 2709–2714.CrossRefPubMedPubMedCentral Nan, X., Hou, J., Maclean, A., et al. (2007). Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proceedings of the National Academy of Sciences of the United States of America, 104(8), 2709–2714.CrossRefPubMedPubMedCentral
go back to reference Oberlé, I., Rousseau, F., Heitzc, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991). Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science, 252, 1097–1102.CrossRefPubMed Oberlé, I., Rousseau, F., Heitzc, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991). Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science, 252, 1097–1102.CrossRefPubMed
go back to reference Ronan, J. L., Wu, W., & Crabtree, G. R. (2013). From neural development to cognition: Unexpected roles for chromatin. Nature Reviews Genetics, 14(5), 347–359.CrossRefPubMedPubMedCentral Ronan, J. L., Wu, W., & Crabtree, G. R. (2013). From neural development to cognition: Unexpected roles for chromatin. Nature Reviews Genetics, 14(5), 347–359.CrossRefPubMedPubMedCentral
go back to reference Schwarz, J. M., Cooper, D. N., Schuelke, M., & Seelow, D. (2014). MutationTaster2: Mutation prediction for the deep-sequencing age. Nature Methods, 11(4), 361–362.CrossRefPubMed Schwarz, J. M., Cooper, D. N., Schuelke, M., & Seelow, D. (2014). MutationTaster2: Mutation prediction for the deep-sequencing age. Nature Methods, 11(4), 361–362.CrossRefPubMed
go back to reference Shihab, H. A., Gough, J., Cooper, D. N., et al. (2013). Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Human Mutation, 34(1), 57–65.CrossRefPubMed Shihab, H. A., Gough, J., Cooper, D. N., et al. (2013). Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Human Mutation, 34(1), 57–65.CrossRefPubMed
go back to reference Sim, N. L., Kumar, P., Hu, J., Henikoff, S., Schneider, G., & Ng, P. C. (2012). SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Research, 40, W452–W457.CrossRefPubMedPubMedCentral Sim, N. L., Kumar, P., Hu, J., Henikoff, S., Schneider, G., & Ng, P. C. (2012). SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Research, 40, W452–W457.CrossRefPubMedPubMedCentral
go back to reference Snow, K., Doud, L., Hagerman, R., Hull, C., Hirst, M. C., Davies, K. E., & Thibodeau, S. L. (1992). Analysis of mutations at the fragile X locus using the DNA probe Ox1.9. American Journal of Medical Genetics, 43(1–2), 244–254.CrossRefPubMed Snow, K., Doud, L., Hagerman, R., Hull, C., Hirst, M. C., Davies, K. E., & Thibodeau, S. L. (1992). Analysis of mutations at the fragile X locus using the DNA probe Ox1.9. American Journal of Medical Genetics, 43(1–2), 244–254.CrossRefPubMed
go back to reference Wisniowiecka-Kowalnik, B., & Nowakowska, B. A. (2019). Genetics and epigenetics of autism spectrum disorder-current evidence in the field. Journal of Applied Genetics, 60(1), 37–47.CrossRefPubMedPubMedCentral Wisniowiecka-Kowalnik, B., & Nowakowska, B. A. (2019). Genetics and epigenetics of autism spectrum disorder-current evidence in the field. Journal of Applied Genetics, 60(1), 37–47.CrossRefPubMedPubMedCentral
go back to reference Yntema, H. G., Poppelaars, F. A., Derksen, E., et al. (2002). Expanding phenotype of XNP mutations: Mild to moderate mental retardation. American Journal of Medical Genetics, 110(3), 243–247.CrossRefPubMed Yntema, H. G., Poppelaars, F. A., Derksen, E., et al. (2002). Expanding phenotype of XNP mutations: Mild to moderate mental retardation. American Journal of Medical Genetics, 110(3), 243–247.CrossRefPubMed
Metagegevens
Titel
Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report
Auteurs
María-Pilar López-Garrido
María-Carmen Carrascosa-Romero
Minerva Montero-Hernández
Jesús Ruiz-Almansa
Francisco Sánchez-Sánchez
Publicatiedatum
20-05-2022
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 1/2024
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-022-05588-x

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