Browse by author
Lookup NU author(s): Professor Jeremy Parr
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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.
Altmetrics provided by Altmetric