Journal of Autism and Developmental Disorders

, Volume 43, Issue 3, pp 530–539

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

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

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.

Keywords

Autism spectrum disorder Developmental delay Fragile X Premutation Screening CGG 

Supplementary material

10803_2012_1580_MOESM1_ESM.doc (198 kb)
Supplementary material 1 (DOC 197 kb)
10803_2012_1580_MOESM2_ESM.doc (198 kb)
Supplementary material 2 (DOC 197 kb)

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Flora Tassone
    • 1
    • 2
  • Nimrah S. Choudhary
    • 1
  • Federica Tassone
    • 1
  • Blythe Durbin-Johnson
    • 3
  • Robin Hansen
    • 2
    • 4
  • Irva Hertz-Picciotto
    • 2
    • 3
    • 5
  • Isaac Pessah
    • 2
    • 6
    • 5
  1. 1.Department of Biochemistry and Molecular Medicine, School of MedicineUniversity of California, DavisSacramentoUSA
  2. 2.MIND InstituteUniversity of California Davis Health SystemSacramentoUSA
  3. 3.Department of Public Health Sciences, School of MedicineUniversity of California, DavisDavisUSA
  4. 4.Department of Pediatrics, School of MedicineUniversity of California, DavisSacramentoUSA
  5. 5.UC Davis Center for Children’s Environmental Health and Disease PreventionUniversity of California, DavisDavisUSA
  6. 6.Department of Molecular Biosciences, School of Veterinary MedicineUniversity of California, DavisDavisUSA

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