title: Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.
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.
authors.affiliation: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France. richard.delorme@rdb.aphp.fr
authors.forename: Richard
authors.initials: R
authors.lastname: Delorme
authors.forename: Catalina
authors.initials: C
authors.lastname: Betancur
authors.forename: Isabelle
authors.initials: I
authors.lastname: Scheid
authors.forename: Henrik
authors.initials: H
authors.lastname: Anckarsäter
authors.forename: Pauline
authors.initials: P
authors.lastname: Chaste
authors.forename: Stéphane
authors.initials: S
authors.lastname: Jamain
authors.forename: Franck
authors.initials: F
authors.lastname: Schuroff
authors.forename: Gudrun
authors.initials: G
authors.lastname: Nygren
authors.forename: Evelyn
authors.initials: E
authors.lastname: Herbrecht
authors.forename: Anne
authors.initials: A
authors.lastname: Dumaine
authors.forename: Marie Christine
authors.initials: MC
authors.lastname: Mouren
authors.forename: Maria
authors.initials: M
authors.lastname: Råstam
authors.forename: Marion
authors.initials: M
authors.lastname: Leboyer
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
authors.forename: Thomas
authors.initials: T
authors.lastname: Bourgeron
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D000368:Aged; D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009771:Obsessive-Compulsive Disorder / Q000235:genetics*; D010375:Pedigree; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C488081:NOS1AP protein, human; D020033:Protein Isoforms