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

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BioMed Central
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PMC
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  • Research Article

Abstract

1471-244X-5-36.fm ral ss BioMed CentBMC Psychiatry Open AcceResearch article Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia Gerald Stöber*1, Bernd Kohlmann1,2, Markus Siekiera1, Claudia Rubie1,3, Micha Gawlik1, Kerstin Möller-Ehrlich1, Thomas Meitinger4 and Thomas Bettecken4,5 Address: 1Department of Psychiatry and Psychotherapy, University of Würzburg, Füchsleinstraße 15, 97080 Würzburg, Germany, 2Department of Child and Youth Psychiatry and Psychotherapy, University of Würzburg, Füchsleinstraße 15, 97080 Würzburg, Germany, 3Department of General, Vascular and Paediatric Surgery, University of the Saarland, Homburg/Saar 66421, Germany, 4Institute of Human Genetics, Technical University of Munich & GSF Ingolstädter Landstr. 1, 85764 Neuherberg, Germany and 5Max-Planck Institute of Psychiatry, Kraepelinstr. 2–10, 80804 Munich, Germany Email: Gerald Stöber* - [email protected]; Bernd Kohlmann - [email protected]; Markus Siekiera - [email protected]; Claudia Rubie - [email protected]; Micha Gawlik - gawlik_m@klinik.uni- wuerzburg.de; Kerstin Möller-Ehrlich - [email protected]; Thomas Meitinger - [email protected]; Thomas Bettecken - [email protected] * Corresponding author 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. Result

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