Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
✍ Scribed by Jamain, Stéphane; Quach, Hélène; Betancur, Catalina; Råstam, Maria; Colineaux, Catherine; Gillberg, I. Carina; Soderstrom, Henrik; Giros, Bruno; Leboyer, Marion; Gillberg, Christopher
- Book ID
- 109918484
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 438 KB
- Volume
- 34
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/ng1136
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## 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
GRIA3 encodes glutamate receptor ionotropic AMPA (alpha-amino-3-hydroxy-5-methyl-4isoxazolepropionic acid) subunit 3 and has been previously involved in X-linked intellectual disability (ID). We report on a male proband with ID and epilepsy associated with a duplication mapping within a gene desert,