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01-03-2013 | Original Paper | Uitgave 3/2013

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

Tijdschrift:: Journal of Autism and Developmental Disorders > Uitgave 3/2013

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

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The online version of this article (doi:10.1007/s10803-012-1580-2) contains supplementary material, which is available to authorized users.

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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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
DOI: https://doi.org/10.1007/s10803-012-1580-2
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Uitgave 3/2013
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

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