Lookup NU author(s): Professor Jeremy Parr
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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.
Author(s): Blasi F, et al, The IMGSAC
Publication type: Article
Publication status: Published
Journal: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
ISSN (print): 1552-4841
ISSN (electronic): 1552-485X
Publisher: John Wiley & Sons, Inc.
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