Toggle Main Menu Toggle Search

Open Access padlockePrints

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 Ann Le Couteur, Emerita Professor Helen McConachie

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


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, Bacchelli E, Pesaresi G, Carone S, Bailey AJ, Maestrini E, International International Molecular Genetic Study of Autism Consortium

Publication type: Article

Publication status: Published

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

Year: 2006

Volume: 141B

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


Altmetrics

Altmetrics provided by Altmetric


Share