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Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.

Blasi, Francesca; Bacchelli, Elena; Pesaresi, Giulia; Carone, Simona; Bailey, Anthony J; Maestrini, Elena; IMGSAC

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2006;141B(3):220-221.

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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.

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United States
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Created by:
Lamb, Janine
13th October, 2009, 16:06:38
Last modified by:
Lamb, Janine
Last modified:
3rd March, 2010, 16:02:07

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