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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-03

AUTHORS

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

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. More... »

PAGES

530-539

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10803-012-1580-2

    DOI

    http://dx.doi.org/10.1007/s10803-012-1580-2

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1014197259

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/22767137


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