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Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2
- Source :
- Psychiatric Genetics, Psychiatric genetics 26(6), 293-296 (2016). doi:10.1097/YPG.0000000000000145
- Publication Year :
- 2016
-
Abstract
- Duplications in 16p11.2 are a risk factor for schizophrenia (SCZ). Using genetically modified zebrafish, Golzio and colleagues identified KCTD13 within 16p11.2 as a major driver of the neuropsychiatric phenotype observed in humans. The aims of the present study were to explore the role of KCTD13 in the development of SCZ and to provide a more complete picture of the allelic architecture at this risk locus. The exons of KCTD13 were sequenced in 576 patients. The mutations c.6G>T and c.598G>A were identified in one patient each. Both mutations were predicted to be functionally relevant and were absent from the 1000 Genomes Project data and the Exome Variant Server. The mutation c.6G>T was predicted to abolish a potential transcription factor-binding site for specifity protein 1. Altered specifity protein 1 expression has been reported in SCZ patients compared with controls. Further studies in large cohorts are warranted to determine the relevance of the two identified mutations.
- Subjects :
- Adult
Male
0301 basic medicine
DNA Copy Number Variations
autism spectrum disorder
Locus (genetics)
Biology
03 medical and health sciences
Exon
Gene Frequency
Germany
Genetic variation
Genetics
Humans
Exome
Genetic Predisposition to Disease
psychosis
ddc:610
1000 Genomes Project
Allele
Allele frequency
Alleles
Biological Psychiatry
Genetics (clinical)
schizoaffective
Genetic Variation
Nuclear Proteins
neurodevelopmental
Middle Aged
Phenotype
3. Good health
Psychiatry and Mental health
030104 developmental biology
Mutation
Schizophrenia
Brief Reports
Female
Chromosomes, Human, Pair 16
copy number variants
Subjects
Details
- ISSN :
- 09558829
- Database :
- OpenAIRE
- Journal :
- Psychiatric Genetics
- Accession number :
- edsair.doi.dedup.....2d0ce4cf66035b228ca7d7c61e5727d9
- Full Text :
- https://doi.org/10.1097/YPG.0000000000000145