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

Artikel i vetenskaplig tidskrift
Författare 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
Publicerad i BMC Medical Genetics
Volym 11
Sidor 108
ISSN 1471-2350
Publiceringsår 2010
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
Sidor 108
Språk en
Länkar dx.doi.org/10.1186/1471-2350-11-108
Ämnesord 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
Ämneskategorier Barn- och ungdomspsykiatri

Sammanfattning

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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