Top

Journal of Autism and Developmental Disorders

Gepubliceerd in:

01-03-2015 | Letter to the Editor

Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology

Auteurs: F. Correia, C. Café, J. Almeida, S. Mouga, G. Oliveira

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2015

Abstract

Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level.

vorige artikel Brief Report: Bone Fractures in Children and Adults with Autism Spectrum Disorders

Allingham-Hawkins, D., & Ray, P. (1995). FRAXE expansion is not a common etiological factor among developmentally delayed males. American Journal of Human Genetics, 56, 72–76.

American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (4th ed, text rev.).

Barnicoat, A., Wang, Q., Turk, J., Green, E., Mathew, C., Flynn, G., et al. (1997). Clinical, cytogenetic, and molecular analysis of three families with FRAXE. Journal of Medical Genetics, 34, 13–17.CrossRefPubMedCentralPubMed

Bensaid, M., Melko, M., Bechara, E., Davidovic, L., Berretta, A., Catania, M., et al. (2009). FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. Nucleic Acids Research, 37(4), 1269–1279.CrossRefPubMedCentralPubMed

Brown, W. (1996). The FRAXE syndrome: Is it time for routine screening? American Journal of Human Genetics, 58, 903–905.PubMedCentralPubMed

Chan, S. Y., & Wong, V. (1998). DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome. Clinical Genetics, 53(3), 179–183.CrossRefPubMed

Cook, D., Nuro, E., & Murai, K. K. (2013). Increasing our understanding of human cognition through the study of fragile X syndrome. Developmental Neurobiology, 31, 1–72.

Flynn, G., Hirst, M., Knight, S., Macpherson, J., Barber, J., Flannery, A., et al. (1993). Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. Journal of Medical Genetics, 30, 97–100.CrossRefPubMedCentralPubMed

Gécz, J. (2000). The FMR2 gene, FRAXE and non-specific X-linked mental retardation: Clinical and molecular aspects. Annals of Human Genetics, 64, 95–106.CrossRefPubMed

Gécz, J., Gedeon, A. K., Sutherland, G. R., & Mulley, J. C. (1996). Identification of the gene FMR2, associated with FRAXE mental retardation. Nature Genetics, 13(1), 105–108.

Gécz, J., Oostra, B., Hockey, A., Carbonell, P., Turner, G., Haan, E., et al. (1997). FMR2 expression in families with FRAXE mental retardation. Human Molecular Genetics, 6(3), 435–441.CrossRefPubMed

Gedeon, A., Keinanen, M., Ades, C., Kaariainen, H., Gecz, J., Baker, E., et al. (1995). Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE. American Journal of Human Genetics, 56, 907–914.PubMedCentralPubMed

Gu, Y., Shen, Y., Gibbs, R. A., & Nelson, D. L. (1996). Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nature Genetics, 13(1), 109–113.CrossRefPubMed

Hillman, M. A., & Gécz, J. (2001). Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator. Journal of Human Genetics, 46(5), 251–259.

Hirst, M., Barnicoat, A., Flynn, G., Wang, Q., Daker, M., Buckle, V. J., et al. (1993). The identification of a third fragile site, FRAXF in Xq27-28 distal to both FRAXA and FRAXE. Human Molecular Genetics, 2, 197–200.CrossRefPubMed

Holden, JJ., Wing, M., Chalifoux, M., Julien-Inalsingh, C., Schutz, C., Robinson, P., et al. (1996). Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders. Am J Med Genet, Aug; 64(2):399-403.

Holinski-Feder, E., Chahrokh-Zadeh, S., Jedele, K., Meindl, A., Steinbach, P., & Wohrle, D. (1996). FRAXE testing. American Journal of Human Genetics, 59(5), 1168–1169.PubMedCentralPubMed

Knight, S. J., Flannery, A. V., Hirst, M. C., Campbell, L., Christodoulou, Z., Phelps, S. R., et al. (1993). Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell, 74(1), 127–134.CrossRefPubMed

Knight, S., Ritchie, R., Chakrabarti, L., Cross, G., Taylor, G., Mueller, R., et al. (1996). A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. American Journal of Human Genetics, 58, 906–913.PubMedCentralPubMed

Knight, S., Voelckel, M., Hirst, M., Flannery, A., Moncla, A., & Davies, K. (1994). Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Journal of Human Genetics, 55, 81–86.

Lord, C., Risi, S., Lambrecht, L., Cook, E., Leventhal, B., Dilavore, P., et al. (1989). Autism diagnostic observation schedule: A standardized observation of communicative and social behaviour. Journal of Autism and Developmental Disorders, 19, 185–212.CrossRefPubMed

Lord, C., Rutter, M., & Le Couter, 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, 659–685.CrossRefPubMed

Melko, M., & Bardoni, B. (2010). The role of G-quadruplex in RNA metabolism: involvement of FMRP and FMR2P. Biochimie, 92(8), 919–926.CrossRefPubMed

Melko, M., Douguet, D., Bensaid, M., Zongaro, S., Verheggen, C., Gecz, J., et al. (2011). Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability. Human Molecular Genetics, 20(10), 1873–1885.CrossRefPubMed

Milà, M., Sànchez, A., Badenas, C., Brun, C., Jiménez, 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(5–6), 503–507.PubMed

Miller, W. L., Skinner, J. A., Foss, G. S., & Davies, K. E. (2000). Localization of the fragile X mental retardation 2 (FMR2) protein in mammalian brain. European Journal of Neuroscience, 12(1), 381–384.CrossRefPubMed

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.CrossRefPubMed

Nigro, C., Faravelli, F., Cavani, S., Perroni, L., Novello, P., Vitali, M., et al. (2000). FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother. European Journal of Human Genetics, 8, 157–162.CrossRefPubMed

Russo, S., Selicorni, A., Bedeshi, M. F., Natacci, F., Viziello, P., Fortuna, R., et al. (1998). Molecular characterization of FRAXE-positive subjects with mental impairment in two unrelated Italian families. American Journal of Medical Genetics, 75(3), 304–308.CrossRefPubMed

Schopler, E., Reichler, R. J., Devellis, R. F., & Daly, K. (1980). Toward objective classification of childhood autism: Childhood Autism Rating Scale. Journal of Autism and Developmental Disorders, 10, 91–103.CrossRefPubMed

Stettner, G. M., Shoukier, M., Hoger, C., Brockmann, K., & Auber, B. (2011). Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. American Journal of Medical Genetics Part A, 155A(8), 2003–2007.CrossRefPubMed

Sutherland, G. R., & Baker, E. (1992). Characterization of a new rare fragile site easily confused with the fragile X. Human Molecular Genetics, 1(2), 111–113.CrossRefPubMed

Sutherland, G. R., & Baker, E. (2000). The clinical significance of fragile sites on human chromosomes. Clinical Genetics, 58(3), 157–161.CrossRefPubMed

Wang, Q., Gu, Y., Ferguson, J., Chen, Q., Boatwright, Q., Gardiner, J., et al. (2003). Cytogenetic analysis of obsessive-compulsive disorder (OCD): Identification of a FRAXE fragile site. American Journal of Medical Genetics Part A, 118(1), 25–28.CrossRefPubMedCentral

Wechsler, D. (2003). Escala de Inteligência de Wechsler para Crianças—terceira edição (WISC-III). Adaptação portuguesa: Simões MR, Rocha A e Ferreira C. Cegoc Lisboa.

World Health Organization. (1992). ICD-10 classifications of mental and behavioural disorder: Clinical descriptions and diagnostic guidelines. Geneva: World Health Organization.

Youings, S., Murray, A., Dennis, N., Ennis, S., Lewis, C., McKechnie, N., et al. (2000). FRAXA and FRAXE: The results of a five year survey. Journal of Medical Genetics, 37, 415–421.CrossRefPubMedCentralPubMed

Titel: Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology
Auteurs: F. Correia
C. Café
J. Almeida
S. Mouga
G. Oliveira
Publicatiedatum: 01-03-2015
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 3/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-014-2185-8

Andere artikelen Uitgave 3/2015

Resting-State Alpha in Autism Spectrum Disorder and Alpha Associations with Thalamic Volume

Original Paper

Evidence for Specificity of Motor Impairments in Catching and Balance in Children with Autism

Original Paper

Examination of Sex Differences in a Large Sample of Young Children with Autism Spectrum Disorder and Typical Development

Original Paper

Sexuality in Adolescent Boys with Autism Spectrum Disorder: Self-reported Behaviours and Attitudes

Original Paper

DSM-5 Changes and the Prevalence of Parent-Reported Autism Spectrum Symptoms in Fragile X Syndrome

Original Paper

Does Gender Influence Core Deficits in ASD? An Investigation into Social-Communication and Play of Girls and Boys with ASD

Original Paper