title: 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.
authors: Department of Physiology, Queen's University, 191 Portsmouth Avenue, Kingston, ON, Canada.
authors: Patrick
authors: P
authors: Malenfant
authors: Xudong
authors: X
authors: Liu
authors: Melissa L
authors: ML
authors: Hudson
authors: Ying
authors: Y
authors: Qiao
authors: Monica
authors: M
authors: Hrynchak
authors: Noémie
authors: N
authors: Riendeau
authors: M Jeannette
authors: MJ
authors: Hildebrand
authors: Ira L
authors: IL
authors: Cohen
authors: Albert E
authors: AE
authors: Chudley
authors: Cynthia
authors: C
authors: Forster-Gibson
authors: Elizabeth C R
authors: EC
authors: Mickelson
authors: Evica
authors: E
authors: Rajcan-Separovic
authors: M E Suzanne
authors: ME
authors: Lewis
authors: Jeanette J A
authors: JJ
authors: Holden
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000483:Alleles; D001008:Anxiety Disorders / Q000235:genetics; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006580:Genetic Carrier Screening; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007398:Interpersonal Relations; D007805:Language Development Disorders / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013239:Stereotyped Behavior; D019473:Transcription Factors, TFII / Q000235:genetics*; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; C104259:GTF2I protein, human; D005819:Genetic Markers; D019473:Transcription Factors, TFII