Bernd Kohlmann

Claudia Rubie

Gerald Stöber

Kerstin Möller-ehrlich

Markus Siekiera

Micha Gawlik

Thomas Bettecken

Thomas Meitinger

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&#39;- and 3&#39;-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

Stöber, G.

Kohlmann, B.

Iekiera, M.

Rubie, C.

Gawlik, M.

Möller-Ehrlich, K.

Meitinger, T.

Bettecken, T.

PuSH

Systematic mutation analysis of KIAA0767 and KIAA I646 in chromosome 22q-linked periodic catatonia.

http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.276.6825

Systematic mutation analysis of KIAA0767 and KIAA1646 in

Systematic mutation analysis of KIAA0767 and KIAA1646 in

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