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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
Author(s) -
Blasi Francesca,
Bacchelli Elena,
Pesaresi Giulia,
Carone Simona,
Bailey Anthony J.,
Maestrini Elena
Publication year - 2006
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30287
Subject(s) - neuroligin , autism , genetics , proband , gene , biology , synaptogenesis , mutation , coding region , medicine , neuroscience , psychiatry , excitatory postsynaptic potential , receptor
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. © 2006 Wiley‐Liss, Inc.