Literature DB >> 15389766

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.

Julie Gauthier1, Anna Bonnel, Judith St-Onge, Liliane Karemera, Sandra Laurent, Laurent Mottron, Eric Fombonne, Ridha Joober, Guy A Rouleau.   

Abstract

Jamain [2003: Nat Genet 34:27-29] recently reported mutations in two neuroligin genes in sib-pairs affected with autism. In order to confirm these causative mutations in our autistic population and to determine their frequency we screened 96 individuals affected with autism. We found no mutations in these X-linked genes. These results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism. Copyright 2004 Wiley-Liss, Inc.

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Year:  2005        PMID: 15389766     DOI: 10.1002/ajmg.b.30066

Source DB:  PubMed          Journal:  Am J Med Genet B Neuropsychiatr Genet        ISSN: 1552-4841            Impact factor:   3.568


  46 in total

1.  Associating neural alterations and genotype in autism and fragile x syndrome: incorporating perceptual phenotypes in causal modeling.

Authors:  Armando Bertone; Julie Hanck; Cary Kogan; Avi Chaudhuri; Kim Cornish
Journal:  J Autism Dev Disord       Date:  2010-12

Review 2.  X linked mental retardation: a clinical guide.

Authors:  F L Raymond
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

Review 3.  Neurexin-neuroligin signaling in synapse development.

Authors:  Ann Marie Craig; Yunhee Kang
Journal:  Curr Opin Neurobiol       Date:  2007-02-01       Impact factor: 6.627

4.  Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Authors:  A Piton; J Gauthier; F F Hamdan; R G Lafrenière; Y Yang; E Henrion; S Laurent; A Noreau; P Thibodeau; L Karemera; D Spiegelman; F Kuku; J Duguay; L Destroismaisons; P Jolivet; M Côté; K Lachapelle; O Diallo; A Raymond; C Marineau; N Champagne; L Xiong; C Gaspar; J-B Rivière; J Tarabeux; P Cossette; M-O Krebs; J L Rapoport; A Addington; L E Delisi; L Mottron; R Joober; E Fombonne; P Drapeau; G A Rouleau
Journal:  Mol Psychiatry       Date:  2010-05-18       Impact factor: 15.992

Review 5.  The genetics of autism: key issues, recent findings, and clinical implications.

Authors:  Paul El-Fishawy; Matthew W State
Journal:  Psychiatr Clin North Am       Date:  2010-03

6.  Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression.

Authors:  Judith L Ross; Luke Bloy; Timothy P L Roberts; Judith Miller; Chao Xing; Lawrence A Silverman; Andrew R Zinn
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2019-06-03       Impact factor: 3.568

7.  Neuroligin-deficient mutants of C. elegans have sensory processing deficits and are hypersensitive to oxidative stress and mercury toxicity.

Authors:  Jerrod W Hunter; Gregory P Mullen; John R McManus; Jessica M Heatherly; Angie Duke; James B Rand
Journal:  Dis Model Mech       Date:  2010-01-18       Impact factor: 5.758

Review 8.  Autism-lessons from the X chromosome.

Authors:  Elysa J Marco; David H Skuse
Journal:  Soc Cogn Affect Neurosci       Date:  2006-12       Impact factor: 3.436

9.  The functional genetic link of NLGN4X knockdown and neurodevelopment in neural stem cells.

Authors:  Lingling Shi; Xiao Chang; Peilin Zhang; Marcelo P Coba; Wange Lu; Kai Wang
Journal:  Hum Mol Genet       Date:  2013-05-24       Impact factor: 6.150

10.  Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites.

Authors:  Gregory Matuszek; Zohreh Talebizadeh
Journal:  BMC Med Genet       Date:  2009-09-24       Impact factor: 2.103

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