Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia

BMC Psychiatry. 2005 Oct 14;5:36. doi: 10.1186/1471-244X-5-36.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 22 / genetics*
  • Codon / genetics
  • DNA Mutational Analysis*
  • Exons / genetics
  • Family
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • Mitochondrial Proteins / genetics*
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic / genetics
  • Schizophrenia, Catatonic / classification
  • Schizophrenia, Catatonic / genetics*

Substances

  • Codon
  • GRAMD4 protein, human
  • Mitochondrial Proteins