Literature DB >> 22048961

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

Patrick Malenfant1, 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.   

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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Year:  2012        PMID： 22048961     DOI： 10.1007/s10803-011-1389-4

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN： 0162-3257


  46 in total

Review 1.  The synaptic vesicle cycle revisited.

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Journal:  Neuron       Date:  2000-11       Impact factor: 17.173

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Review 3.  Neurochemistry in the pathophysiology of autism.

Authors:  Christopher J McDougle; Craig A Erickson; Kimberly A Stigler; David J Posey
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4.  Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

Authors:  Marjolein Kriek; Stefan J White; Karoly Szuhai; Jeroen Knijnenburg; Gert-Jan B van Ommen; Johan T den Dunnen; Martijn H Breuning
Journal:  Eur J Hum Genet       Date:  2006-02       Impact factor: 4.246

5.  Language abilities in Williams syndrome: a critical review.

Authors:  Jon Brock
Journal:  Dev Psychopathol       Date:  2007

6.  Opposing functions of TFII-I spliced isoforms in growth factor-induced gene expression.

Authors:  Shweta Hakre; María Isabel Tussie-Luna; Todd Ashworth; Carl D Novina; Jeffrey Settleman; Phillip A Sharp; Ananda L Roy
Journal:  Mol Cell       Date:  2006-10-20       Impact factor: 17.970

Review 7.  Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Authors:  Giuseppe Merla; Nicola Brunetti-Pierri; Lucia Micale; Carmela Fusco
Journal:  Hum Genet       Date:  2010-05-01       Impact factor: 4.132

8.  The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism.

Authors:  C Lord; S Risi; L Lambrecht; E H Cook; B L Leventhal; P C DiLavore; A Pickles; M Rutter
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9.  The PDD Behavior Inventory: a rating scale for assessing response to intervention in children with pervasive developmental disorder.

Authors:  Ira L Cohen; Susan Schmidt-Lackner; Raymond Romanczyk; Vicki Sudhalter
Journal:  J Autism Dev Disord       Date:  2003-02

10.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
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  33 in total

1.  Children with 7q11.23 duplication syndrome: psychological characteristics.

Authors:  Carolyn B Mervis; Bonita P Klein-Tasman; Myra J Huffman; Shelley L Velleman; C Holley Pitts; Danielle R Henderson; Janet Woodruff-Borden; Colleen A Morris; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2015-04-21       Impact factor: 2.802

2.  Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome.

Authors:  Bonita P Klein-Tasman; Carolyn B Mervis
Journal:  J Autism Dev Disord       Date:  2018-06

3.  The Williams syndrome prosociality gene GTF2I mediates oxytocin reactivity and social anxiety in a healthy population.

Authors:  Tanya L Procyshyn; Jason Spence; Silven Read; Neil V Watson; Bernard J Crespi
Journal:  Biol Lett       Date:  2017-04       Impact factor: 3.703

Review 4.  The contribution of GTF2I haploinsufficiency to Williams syndrome.

Authors:  Thanathom Chailangkarn; Chalongrat Noree; Alysson R Muotri
Journal:  Mol Cell Probes       Date:  2018-01-03       Impact factor: 2.365

5.  The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.

Authors:  Andrew T N Tebbenkamp; Luis Varela; Jinmyung Choi; Miguel I Paredes; Alice M Giani; Jae Eun Song; Matija Sestan-Pesa; Daniel Franjic; André M M Sousa; Zhong-Wu Liu; Mingfeng Li; Candace Bichsel; Marco Koch; Klara Szigeti-Buck; Fuchen Liu; Zhuo Li; Yuka I Kawasawa; Constantinos D Paspalas; Yann S Mineur; Paolo Prontera; Giuseppe Merla; Marina R Picciotto; Amy F T Arnsten; Tamas L Horvath; Nenad Sestan
Journal:  Cell       Date:  2018-11-01       Impact factor: 41.582

6.  Evolution of general transcription factors.

Authors:  K V Gunbin; A Ruvinsky
Journal:  J Mol Evol       Date:  2012-12-11       Impact factor: 2.395

Review 7.  The social phenotype of Williams syndrome.

Authors:  Anna Järvinen; Julie R Korenberg; Ursula Bellugi
Journal:  Curr Opin Neurobiol       Date:  2013-01-15       Impact factor: 6.627

8.  Inverted low-copy repeats and genome instability--a genome-wide analysis.

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9.  7q11.23 Duplication syndrome: Physical characteristics and natural history.

Authors:  Colleen A Morris; Carolyn B Mervis; Alex P Paciorkowski; Omar Abdul-Rahman; Sarah L Dugan; Alan F Rope; Patricia Bader; Laura G Hendon; Shelley L Velleman; Bonita P Klein-Tasman; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2015-09-03       Impact factor: 2.802

Review 10.  The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.

Authors:  Elham Abbas; Devin M Cox; Teri Smith; Merlin G Butler
Journal:  J Pediatr Genet       Date:  2016-06-15
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