Mutation screening of <it>NOS1AP </it>gene in a large sample of psychiatric patients and controls
<p>Abstract</p> <p>Background</p> <p>The gene encoding carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (<it>NOS1AP</it>) is located on chromosome 1q23.3, a candidate region for schizophrenia, autism spectrum disorders (ASD) and obsessive-compu...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2010-07-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/11/108 |
| _version_ | 1819292850885492736 |
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| author | Nygren Gudrun Schuroff Franck Jamain Stéphane Chaste Pauline Anckarsäter Henrik Scheid Isabelle Betancur Catalina Delorme Richard Herbrecht Evelyn Dumaine Anne Mouren Marie Råstam Maria Leboyer Marion Gillberg Christopher Bourgeron Thomas |
| author_facet | Nygren Gudrun Schuroff Franck Jamain Stéphane Chaste Pauline Anckarsäter Henrik Scheid Isabelle Betancur Catalina Delorme Richard Herbrecht Evelyn Dumaine Anne Mouren Marie Råstam Maria Leboyer Marion Gillberg Christopher Bourgeron Thomas |
| author_sort | Nygren Gudrun |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>The gene encoding carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (<it>NOS1AP</it>) 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 <it>NOS1AP </it>in these psychiatric conditions, but only a limited number explored the sequence variability of <it>NOS1AP</it>.</p> <p>Methods</p> <p>We analyzed the coding sequence of <it>NOS1AP </it>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).</p> <p>Results</p> <p>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.</p> <p>Conclusions</p> <p>Coding variations of <it>NOS1AP </it>are relatively rare in patients and controls. Nevertheless, we report the first non-synonymous variations within the human <it>NOS1AP </it>gene that warrant further genetic and functional investigations to ascertain their roles in the susceptibility to psychiatric disorders.</p> |
| first_indexed | 2024-12-24T04:01:05Z |
| format | Article |
| id | doaj.art-31eebaf8aa1d456ab3947ef4484e77b8 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-24T04:01:05Z |
| publishDate | 2010-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-31eebaf8aa1d456ab3947ef4484e77b82022-12-21T17:16:19ZengBMCBMC Medical Genetics1471-23502010-07-0111110810.1186/1471-2350-11-108Mutation screening of <it>NOS1AP </it>gene in a large sample of psychiatric patients and controlsNygren GudrunSchuroff FranckJamain StéphaneChaste PaulineAnckarsäter HenrikScheid IsabelleBetancur CatalinaDelorme RichardHerbrecht EvelynDumaine AnneMouren MarieRåstam MariaLeboyer MarionGillberg ChristopherBourgeron Thomas<p>Abstract</p> <p>Background</p> <p>The gene encoding carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (<it>NOS1AP</it>) 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 <it>NOS1AP </it>in these psychiatric conditions, but only a limited number explored the sequence variability of <it>NOS1AP</it>.</p> <p>Methods</p> <p>We analyzed the coding sequence of <it>NOS1AP </it>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).</p> <p>Results</p> <p>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.</p> <p>Conclusions</p> <p>Coding variations of <it>NOS1AP </it>are relatively rare in patients and controls. Nevertheless, we report the first non-synonymous variations within the human <it>NOS1AP </it>gene that warrant further genetic and functional investigations to ascertain their roles in the susceptibility to psychiatric disorders.</p>http://www.biomedcentral.com/1471-2350/11/108 |
| spellingShingle | Nygren Gudrun Schuroff Franck Jamain Stéphane Chaste Pauline Anckarsäter Henrik Scheid Isabelle Betancur Catalina Delorme Richard Herbrecht Evelyn Dumaine Anne Mouren Marie Råstam Maria Leboyer Marion Gillberg Christopher Bourgeron Thomas Mutation screening of <it>NOS1AP </it>gene in a large sample of psychiatric patients and controls BMC Medical Genetics |
| title | Mutation screening of <it>NOS1AP </it>gene in a large sample of psychiatric patients and controls |
| title_full | Mutation screening of <it>NOS1AP </it>gene in a large sample of psychiatric patients and controls |
| title_fullStr | Mutation screening of <it>NOS1AP </it>gene in a large sample of psychiatric patients and controls |
| title_full_unstemmed | Mutation screening of <it>NOS1AP </it>gene in a large sample of psychiatric patients and controls |
| title_short | Mutation screening of <it>NOS1AP </it>gene in a large sample of psychiatric patients and controls |
| title_sort | mutation screening of it nos1ap it gene in a large sample of psychiatric patients and controls |
| url | http://www.biomedcentral.com/1471-2350/11/108 |
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