1. Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study.
- Author
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Tassone, Flora, Choudhary, Nimrah, Tassone, Federica, Durbin-Johnson, Blythe, Hansen, Robin, Hertz-Picciotto, Irva, and Pessah, Isaac
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GENETIC testing , *ALLELES , *ANALYSIS of variance , *AUTISM , *CAPILLARY electrophoresis , *CHI-squared test , *CONFIDENCE intervals , *FISHER exact test , *FRAGILE X syndrome , *GENETIC mutation , *POLYMERASE chain reaction , *RESEARCH funding , *SCALES (Weighing instruments) , *COMORBIDITY , *DATA analysis software , *DESCRIPTIVE statistics - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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