| Autor: |
Gawlik Micha, Rubie Claudia, Siekiera Markus, Kohlmann Bernd, Stöber Gerald, Möller-Ehrlich Kerstin, Meitinger Thomas, Bettecken Thomas |
| Jazyk: |
angličtina |
| Rok vydání: |
2005 |
| Předmět: |
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| Zdroj: |
BMC Psychiatry, Vol 5, Iss 1, p 36 (2005) |
| Druh dokumentu: |
article |
| ISSN: |
1471-244X |
| DOI: |
10.1186/1471-244X-5-36 |
| Popis: |
Abstract Background Periodic catatonia is a familial subtype of schizophrenia characterized by hyperkinetic and akinetic episodes, followed by a catatonic residual syndrome. The phenotype has been evaluated in two independent genome-wide linkage scans with evidence for a major locus on chromosome 15q15, and a second independent locus on chromosome 22qtel. Methods In the positional and brain-expressed candidate genes KIAA0767 and KIAA1646, we searched for variants in the complete exons and adjacent splice-junctions as well as in parts of the 5'- and 3'-untranslated regions by means of a systematic mutation screening in individuals from chromosome 22q-linked pedigrees. Results The mutation scan revealed 24 single nucleotide polymorphisms, among them two rare codon variants (KIAA0767: S159I; KIAA1646: V338G). However, both were neither found segregating with the disease in the respective pedigree nor found at a significant frequency in a case-control association sample. Conclusion Starting from linkage signals at chromosome22qtel in periodic catatonia, we screened two positional brain-expressed candidate genes for genetic variation. Our study excludes genetic variations in the coding and putative promoter regions of KIAA0767 and KIAA1646 as causative factors for periodic catatonia. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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