Abstract
Neuroligin abnormalities have been recently implicated in the actiology 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. (c) 2006 Wiley-Liss, Inc.
Original language | English |
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Pages (from-to) | 220-221 |
Number of pages | 2 |
Journal | American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics |
Volume | 141B |
Issue number | 3 |
DOIs | |
Publication status | Published - 5 Apr 2006 |
Keywords
- autism
- neuroligin
- chromosome X
- mutation screening
- synaptogenesis
- NLGN4