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Absence of coding mutations in the X-Linked Absence of coding mutations in the X-Linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection

Lookup NU author(s): Professor Jeremy Parr

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Abstract

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.


Publication metadata

Author(s): Blasi F, et al, The IMGSAC

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year: 2006

Volume: 141

Issue: 3

Pages: 220-221

ISSN (print): 1552-4841

ISSN (electronic): 1552-485X

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/ajmg.b.30287

DOI: 10.1002/ajmg.b.30287


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