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

Delorme, Richard; Scheid, Isabelle; Anckarsäter, Henrik LU ; Chaste, Pauline; Jamain, Stephane; Schuroff, Franck; Nygren, Gudrun; Herbrecht, Evelyn; Dumaine, Anne and Mouren, Marie Christine, et al. (2010) In BMC Med Genet 11(1:108).
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... (More)
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. (Less)
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BMC Med Genet
volume
11
issue
1:108
publisher
BioMed Central
external identifiers
  • Scopus:77954166772
DOI
10.1186/1471-2350-11-108
language
English
LU publication?
yes
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7f088384-604a-4a0a-b056-5e7e33d48504 (old id 1627794)
date added to LUP
2011-02-18 15:02:10
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2016-10-13 04:42:02
@misc{7f088384-604a-4a0a-b056-5e7e33d48504,
  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.},
  author       = {Delorme, Richard and Scheid, Isabelle and Anckarsäter, Henrik and Chaste, Pauline and Jamain, Stephane and Schuroff, Franck and Nygren, Gudrun and Herbrecht, Evelyn and Dumaine, Anne and Mouren, Marie Christine and Råstam, Maria and Leboyer, Marion and Gillberg, Christopher and Bourgeron, Thomas},
  language     = {eng},
  number       = {1:108},
  publisher    = {ARRAY(0x9a8f030)},
  series       = {BMC Med Genet},
  title        = {Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls},
  url          = {http://dx.doi.org/10.1186/1471-2350-11-108},
  volume       = {11},
  year         = {2010},
}