title: Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.
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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Psychiatry and Psychotherapy, University of Würzburg, Füchsleinstrasse 15, 97080 Würzburg, Germany. stoeber_g@klinik.uni-wuerzburg.de
authors.forename: Gerald
authors.initials: G
authors.lastname: Stöber
authors.forename: Bernd
authors.initials: B
authors.lastname: Kohlmann
authors.forename: Markus
authors.initials: M
authors.lastname: Iekiera
authors.forename: Claudia
authors.initials: C
authors.lastname: Rubie
authors.forename: Micha
authors.initials: M
authors.lastname: Gawlik
authors.forename: Kerstin
authors.initials: K
authors.lastname: Möller-Ehrlich
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.forename: Thomas
authors.initials: T
authors.lastname: Bettecken
mesh_terms: D016022:Case-Control Studies; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005190:Family; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D012560:Schizophrenia, Catatonic / Q000145:classification / Q000235:genetics*
chemical_list: D003062:Codon; C503369:GRAMD4 protein, human; D024101:Mitochondrial Proteins