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Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

Item Type:Article
Title:Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity
Creators Name:Stoeber, G. and Seelow, D. and Rueschendorf, F. and Ekici, A. and Beckmann, H. and Reis, A.
Abstract:We earlier reported significant evidence for linkage on chromosome 15q15 in periodic catatonia, a sub-phenotype of schizohrenic psychoses. The disorder is characteried by qualitative hyperkinetic and akinetic psychomotor disturbances through acute psychotic episodes and debilitating symptoms in the long term, with psychomotor weakness, grimacing facial movements and apathy. Here, we confirm mapping of a major gene locus on chromosome 15q15 in a second genome scan in a new set of four multiplex families. Non-parametric multipoint linkage analyses identified a broad region with a maximum peak of Zall =3.91 (P=0.006) and Zlr =3.04 at D15s1234 (P=0.001), satisfying conventional criteria for confirmed linkage. Parametric affected-only analyses under an autosomal dominant model gave a maximum HLOD score of 1.65 (D15S1234) with an estimated 47% of families being linked. Analysis of individuals families showed that one large family showed linkage, whereas two others could be clearly excluded, confirming genetic heterogeneity. No other locus reached suggestive levels of signifiance. Haplotype analysis on chromosome 15 in this and previously linked families placed the susceptibility region to a 11-cM interval between marker D15S1042 and D15S659. Periodic catatonia is the first sub-phenotype of schizophrenic psychoses with confirmed linkage despite the existence of considerable genetic heterogeneity.
Keywords:Catatonia, Chromosome Mapping, Genetic Heterogeneity, Haplotypes, Linkage, Pair 15 Human Chromosomes, Pedigree
Source:Human Genetics
Page Range:323-330
Date:October 2002
Official Publication:https://doi.org/10.1007/s00439-002-0805-4
PubMed:View item in PubMed

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