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

被引：0
|
作者：
Patrick Malenfant
Xudong Liu
Melissa L. Hudson
Ying Qiao
Monica Hrynchak
Noémie Riendeau
M. Jeannette Hildebrand
Ira L. Cohen
Albert E. Chudley
Cynthia Forster-Gibson
Elizabeth C. R. Mickelson
Evica Rajcan-Separovic
M. E. Suzanne Lewis
Jeanette J. A. Holden
机构：
[1] Queen’s University,Department of Physiology
[2] Ongwanada Resource Centre,Autism Research Program & Genomics and Genetics Research Laboratory
[3] Autism Spectrum Disorders–Canadian-American Research Consortium,Department of Psychiatry
[4] Queen’s University,Department of Pathology
[5] University of British Columbia,Department of Medical Genetics
[6] University of British Columbia and BC Child and Family Research Institute,Department of Laboratory Medicine, Cytogenetic Laboratory
[7] Royal Columbian Hospital,Department of Psychology
[8] New York State Institute for Basic Research in Developmental Disabilities,George A. Jervis Clinic
[9] New York State Institute for Basic Research in Developmental Disabilities,WRHA Program in Genetics & Metabolism, Departments of Pediatrics and Child Health, Biochemistry and Medical Genetics
[10] University of Manitoba,Department of Family Medicine
[11] Queen’s University,Department of Pediatrics
[12] University of British Columbia,Centre for Neuroscience Studies
[13] Queen’s University,undefined
来源：
Journal of Autism and Developmental Disorders | 2012年 / 42卷
关键词：
Autism Spectrum Disorders (ASDs); Gene association; gene; 7q11.23 duplication; Williams-Beuren Syndrome (WBS);
D O I：
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中图分类号：
学科分类号：
摘要：
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.
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页码：1459 / 1469
页数：10
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