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Journal of Autism and Developmental Disorders
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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.
vorige artikel Social Anxiety in Parents of High-Functioning Children with Autism and Asperger Syndrome
volgende artikel A Parent-Mediated Intervention to Increase Responsive Parental Behaviors and Child Communication in Children with ASD: A Randomized Clinical Trial
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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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