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

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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.

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Acknowledgments

A particular thanks to the families participating in the CHARGE study. This work was supported by the National Institutes of Health [HD02274], matching funds for the CHARGE study, and by R01-ES015359, P01ES011269 from the National Institute of Environmental Health Sciences and Award Numbers R833292 and R829388 from the Environmental Protection Agency. The project described was also supported by the National Center for Research Resources, National lnstitutes of Health, through grant #UL1 RR024146. This work is dedicated to the memory of Matteo.

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  1. Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, 2700 Stockton Blvd, Suite 2102, Sacramento, CA, 95817, USA

    Flora Tassone, Nimrah S. Choudhary & Federica Tassone

  2. MIND Institute, University of California Davis Health System, Sacramento, CA, USA

    Flora Tassone, Robin Hansen, Irva Hertz-Picciotto & Isaac Pessah

  3. Department of Public Health Sciences, School of Medicine, University of California, Davis, Davis, CA, USA

    Blythe Durbin-Johnson & Irva Hertz-Picciotto

  4. Department of Pediatrics, School of Medicine, University of California, Davis, Sacramento, CA, USA

    Robin Hansen

  5. UC Davis Center for Children’s Environmental Health and Disease Prevention, University of California, Davis, Davis, CA, USA

    Irva Hertz-Picciotto & Isaac Pessah

  6. Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, One Shields Avenue, Davis, CA, 95616, USA

    Isaac Pessah

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  1. Flora Tassone
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Tassone, F., Choudhary, N.S., Tassone, F. et al. Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study. J Autism Dev Disord 43, 530–539 (2013). https://doi.org/10.1007/s10803-012-1580-2

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