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

Journal article
Authors Richard Delorme
Catalina Betancur
Isabelle Scheid
Henrik Anckarsäter
Pauline Chaste
Stéphane Jamain
Franck Schuroff
Gudrun Nygren
Evelyn Herbrecht
Anne Dumaine
Marie Christine Mouren-Simeoni
Maria Råstam
Marion Leboyer
Christopher Gillberg
Thomas Bourgeron
Published in BMC Medical Genetics
Volume 11
Pages 108
ISSN 1471-2350
Publication year 2010
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 108
Language en
Keywords Adaptor Proteins, Signal Transducing, Genetics, Metabolism, Adult, Aged, Alleles, Amino Acid Sequence, Amino Acid Substitution, Child, Child Development Disorders, Pervasive, Genetics, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Obsessive-Compulsive Disorder, Genetics, Pedigree, Protein Isoforms, Genetics, Metabolism, Schizophrenia, Genetics
Subject categories Child and adolescent psychiatry


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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