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

F Blasi, E Bacchelli, G Pesaresi, S Carone, AJ Bailey, E Maestrini*, Int Molecular Genetic Study Autism, Chantal Kemner

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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 languageEnglish
Pages (from-to)220-221
Number of pages2
JournalAmerican Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Volume141B
Issue number3
DOIs
Publication statusPublished - 5 Apr 2006

Keywords

  • autism
  • neuroligin
  • chromosome X
  • mutation screening
  • synaptogenesis
  • NLGN4

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