Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders

J Autism Dev Disord. 2012 Jul;42(7):1459-69. doi: 10.1007/s10803-011-1389-4.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5' Untranslated Regions / genetics
  • Alleles*
  • Anxiety Disorders / genetics
  • Child
  • Child Development Disorders, Pervasive / genetics*
  • Chromosome Deletion*
  • Chromosome Duplication / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Exons / genetics
  • Female
  • Genetic Association Studies*
  • Genetic Carrier Screening
  • Genetic Markers / genetics
  • Genetic Testing
  • Humans
  • Interpersonal Relations
  • Language Development Disorders / genetics
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide / genetics*
  • Stereotyped Behavior
  • Transcription Factors, TFII / genetics*
  • Williams Syndrome / genetics*


  • 5' Untranslated Regions
  • GTF2I protein, human
  • Genetic Markers
  • Transcription Factors, TFII