Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders / Patrick MALENFANT in Journal of Autism and Developmental Disorders, 42-7 (July 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469 Titre : Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2012 Article en page(s) : p.1459-1469 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorders (ASDs)  Gene association  GTF2i gene  7q11.23 duplication  Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166 [article] Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2012 . - p.1459-1469. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469 Mots-clés : Autism Spectrum Disorders (ASDs)  Gene association  GTF2i gene  7q11.23 duplication  Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166

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