| Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. | |
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MedLine Citation:
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PMID: 16508939 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neuroligin abnormalities have been recently implicated in the aetiology of autism spectrum disorders (ASD), given the finding of point mutations in the two X-linked genes NLGN3 and NLGN4X and the important role of neuroligins in synaptogenesis. To enquire on the relevance and frequency of neuroligin mutations in ASD, we performed a mutation screening of NLGN3 and NLGN4X in a sample of 124 autism probands from the International Molecular Genetic Study of Autism Consortium (IMGSAC). We identified a new non-synonymous variant in NLGN3 (Thr632Ala), which is likely to be a rare polymorphism. Our data indicate that coding mutations in these genes are very rarely associated to ASD. |
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Authors:
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Francesca Blasi; Elena Bacchelli; Giulia Pesaresi; Simona Carone; Anthony J Bailey; Elena Maestrini; |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Volume: 141B ISSN: 1552-4841 ISO Abbreviation: Am. J. Med. Genet. B Neuropsychiatr. Genet. Publication Date: 2006 Apr |
Date Detail:
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Created Date: 2006-04-03 Completed Date: 2006-05-30 Revised Date: 2012-02-23 |
Medline Journal Info:
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Nlm Unique ID: 101235742 Medline TA: Am J Med Genet B Neuropsychiatr Genet Country: United States |
Other Details:
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Languages: eng Pagination: 220-1 Citation Subset: IM |
Copyright Information:
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Copyright 2006 Wiley-Liss, Inc. |
Affiliation:
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Department of Biology, University of Bologna, Bologna, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Autistic Disorder
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genetics* Carrier Proteins / genetics* Cell Adhesion Molecules, Neuronal Chromosomes, Human, X / genetics* DNA Mutational Analysis Exons / genetics Female Genetic Linkage Humans International Cooperation Male Membrane Proteins / genetics* Mutation* Mutation, Missense Nerve Tissue Proteins / genetics* Polymorphism, Single Nucleotide Registries |
| Grant Support | |
ID/Acronym/Agency:
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GGP030227//Telethon; //Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/Cell Adhesion Molecules, Neuronal; 0/Membrane Proteins; 0/NLGN4X protein, human; 0/Nerve Tissue Proteins; 0/neuroligin 3 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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