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Gepubliceerd in: Journal of Autism and Developmental Disorders 7/2012

01-07-2012 | Original Paper

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

Auteurs: 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

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 7/2012

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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.
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Metagegevens
Titel
Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders
Auteurs
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
Publicatiedatum
01-07-2012
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 7/2012
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-011-1389-4

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