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01-07-2012 | Original Paper | Uitgave 7/2012

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

Tijdschrift:: Journal of Autism and Developmental Disorders > Uitgave 7/2012

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

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Patrick Malenfant and Xudong Liu contributed equally to the work.

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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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
DOI: https://doi.org/10.1007/s10803-011-1389-4
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Uitgave 7/2012
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

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

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