Related resources
Full-text held externally
- DOI: 10.1002/ajmg.b.30287
- PMID: 16508939
- UKPMCID: 16508939
Search for item elsewhere
University researcher(s)
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.
Access to files
Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:
Full-text held externally
- DOI: 10.1002/ajmg.b.30287
- PMID: 16508939
- UKPMCID: 16508939
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.