期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
卷 141B, 期 3, 页码 220-221出版社
WILEY
DOI: 10.1002/ajmg.b.30287
关键词
autism; neuroligin; chromosome X; mutation screening; synaptogenesis
资金
- Telethon [GGP030227] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
Neuroligin abnormalities have been recently implicated in the actiology 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. (c) 2006 Wiley-Liss, Inc.
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