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.
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.
Authors: Lynn E DeLisi; Sarah H Shaw; Timothy J Crow; Gail Shields; Angela B Smith; Veronica W Larach; Nigel Wellman; Josephine Loftus; Betsy Nanthakumar; Kamran Razi; John Stewart; Margherita Comazzi; Antonio Vita; Thomas Heffner; Robin Sherrington Journal: Am J Psychiatry Date: 2002-05 Impact factor: 18.112
Authors: Gerald Stöber; Dominik Seelow; Franz Rüschendorf; Arif Ekici; Helmut Beckmann; André Reis Journal: Hum Genet Date: 2002-08-29 Impact factor: 4.132
Authors: J M Devaney; E A Donarum; K M Brown; J Meyer; G Stöber; K P Lesch; G Nestadt; D A Stephan; A E Pulver Journal: Mol Psychiatry Date: 2002 Impact factor: 15.992
Authors: Cathryn M Lewis; Douglas F Levinson; Lesley H Wise; Lynn E DeLisi; Richard E Straub; Iiris Hovatta; Nigel M Williams; Sibylle G Schwab; Ann E Pulver; Stephen V Faraone; Linda M Brzustowicz; Charles A Kaufmann; David L Garver; Hugh M D Gurling; Eva Lindholm; Hilary Coon; Hans W Moises; William Byerley; Sarah H Shaw; Andrea Mesen; Robin Sherrington; F Anthony O'Neill; Dermot Walsh; Kenneth S Kendler; Jesper Ekelund; Tiina Paunio; Jouko Lönnqvist; Leena Peltonen; Michael C O'Donovan; Michael J Owen; Dieter B Wildenauer; Wolfgang Maier; Gerald Nestadt; Jean-Louis Blouin; Stylianos E Antonarakis; Bryan J Mowry; Jeremy M Silverman; Raymond R Crowe; C Robert Cloninger; Ming T Tsuang; Dolores Malaspina; Jill M Harkavy-Friedman; Dragan M Svrakic; Anne S Bassett; Jennifer Holcomb; Gursharan Kalsi; Andrew McQuillin; Jon Brynjolfson; Thordur Sigmundsson; Hannes Petursson; Elena Jazin; Tomas Zoëga; Tomas Helgason Journal: Am J Hum Genet Date: 2003-06-11 Impact factor: 11.025