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Open Access 01-12-2010 | Research article

Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls

Authors: Richard Delorme, Catalina Betancur, Isabelle Scheid, Henrik Anckarsäter, Pauline Chaste, Stéphane Jamain, Franck Schuroff, Gudrun Nygren, Evelyn Herbrecht, Anne Dumaine, Marie Christine Mouren, Maria Råstam, Marion Leboyer, Christopher Gillberg, Thomas Bourgeron

Published in: BMC Medical Genetics | Issue 1/2010

Abstract

Background

The gene encoding carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (NOS1AP) is located on chromosome 1q23.3, a candidate region for schizophrenia, autism spectrum disorders (ASD) and obsessive-compulsive disorder (OCD). Previous genetic and functional studies explored the role of NOS1AP in these psychiatric conditions, but only a limited number explored the sequence variability of NOS1AP.

Methods

We analyzed the coding sequence of NOS1AP in a large population (n = 280), including patients with schizophrenia (n = 72), ASD (n = 81) or OCD (n = 34), and in healthy volunteers controlled for the absence of personal or familial history of psychiatric disorders (n = 93).

Results

Two non-synonymous variations, V37I and D423N were identified in two families, one with two siblings with OCD and the other with two brothers with ASD. These rare variations apparently segregate with the presence of psychiatric conditions.

Conclusions

Coding variations of NOS1AP are relatively rare in patients and controls. Nevertheless, we report the first non-synonymous variations within the human NOS1AP gene that warrant further genetic and functional investigations to ascertain their roles in the susceptibility to psychiatric disorders.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/11/108/prepub

Title: Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls
Authors: Richard Delorme
Catalina Betancur
Isabelle Scheid
Henrik Anckarsäter
Pauline Chaste
Stéphane Jamain
Franck Schuroff
Gudrun Nygren
Evelyn Herbrecht
Anne Dumaine
Marie Christine Mouren
Maria Råstam
Marion Leboyer
Christopher Gillberg
Thomas Bourgeron
Publication date: 01-12-2010
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2010
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-11-108

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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