Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1 |
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Authors: | Xia J H Yang Y F Deng H Tang B S Tang D S He Y G Xia K Chen S X Li Y X Pan Q Long Z G Dai H P Liao X D Xiao J F Liu Z R Lu C Y Yu K P Deng H X |
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Affiliation: | National Laboratory of Medical Genetics of China, Department of Neurology, Xiangya Hospital, Hunan Medical University, Changsha, China. nlmglcy@public.cs.hn.cn |
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Abstract: | Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24. 1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (theta = 0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis. |
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