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Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders

Abstract  

Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A
1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals
screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A
,
CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe
problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe
social interaction problems and repetitive behaviors.

  • Content Type Journal Article
  • Category Original Paper
  • Pages 1-11
  • DOI 10.1007/s10803-011-1389-4
  • Authors
    • Patrick Malenfant, Department of Physiology, Queen’s University, 191 Portsmouth Avenue, Kingston, ON, Canada
    • Xudong Liu, Autism Research Program & Genomics and Genetics Research Laboratory, Ongwanada Resource Centre, 191 Portsmouth Avenue, Kingston, ON, Canada
    • Melissa L. Hudson, Autism Research Program & Genomics and Genetics Research Laboratory, Ongwanada Resource Centre, 191 Portsmouth Avenue, Kingston, ON, Canada
    • Ying Qiao, Autism Spectrum Disorders–Canadian-American Research Consortium, Kingston, ON, Canada
    • Monica Hrynchak, Department of Laboratory Medicine, Cytogenetic Laboratory, Royal Columbian Hospital, New Westminster, BC, Canada
    • Noémie Riendeau, Autism Spectrum Disorders–Canadian-American Research Consortium, Kingston, ON, Canada
    • M. Jeannette Hildebrand, Autism Spectrum Disorders–Canadian-American Research Consortium, Kingston, ON, Canada
    • Ira L. Cohen, Autism Spectrum Disorders–Canadian-American Research Consortium, Kingston, ON, Canada
    • Albert E. Chudley, Autism Spectrum Disorders–Canadian-American Research Consortium, Kingston, ON, Canada
    • Cynthia Forster-Gibson, Autism Spectrum Disorders–Canadian-American Research Consortium, Kingston, ON, Canada
    • Elizabeth C. R. Mickelson, Autism Spectrum Disorders–Canadian-American Research Consortium, Kingston, ON, Canada
    • Evica Rajcan-Separovic, Autism Spectrum Disorders–Canadian-American Research Consortium, Kingston, ON, Canada
    • M. E. Suzanne Lewis, Autism Spectrum Disorders–Canadian-American Research Consortium, Kingston, ON, Canada
    • Jeanette J. A. Holden, Department of Physiology, Queen’s University, 191 Portsmouth Avenue, Kingston, ON, Canada