Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders
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- 作者：Patrick Malenfant (123)
Xudong Liu (234)
Melissa L. Hudson (234)
Ying Qiao (356)
Monica Hrynchak (7)
Noémie Riendeau (36)
M. Jeannette Hildebrand (36)
Ira L. Cohen (389)
Albert E. Chudley (310)
Cynthia Forster-Gibson (311)
Elizabeth C. R. Mickelson (312)
Evica Rajcan-Separovic (35)
M. E. Suzanne Lewis (36)
Jeanette J. A. Holden (123413) holdenj@queensu.ca - 关键词：Autism Spectrum Disorders (ASDs) – Gene association – GTF2i gene – 7q11.23 duplication – Williams ; Beuren Syndrome (WBS)
- 刊名：Journal of Autism and Developmental Disorders
- 出版年：2012
- 出版时间：July 2012
- 年：2012
- 卷：42
- 期：7
- 页码：1459-1469
- 全文大小：317.1 KB
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- 刊物类别：Behavioral Science
- 刊物主题：Psychology
Child and School Psychology
Pediatrics - 出版者：Springer Netherlands
- ISSN：1573-3432
文摘
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.