Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster

Hans Christian Hennies, Wolfgang Küster, Dietmar Mischke, André Reis

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Palmoplantar keratoderma is a frequent hereditary disorder of keratinization in humans. Various clinically, histopathologically and genetically distinct phenotypes can be diagnosed. Recently, mutations in the keratin genes have been identified in palmoplantar keratoderma: mutations in the keratin 9 gene causing the epidermolytic form, and mutations in the keratin 1 gene in a non-epidermolytic form. We have now investigated a family with the striated form of palmoplantar keratoderma (type Brünauer-Fuhs-Siemens) for linkage to either the type II keratin gene cluster on chromosome 12q or the type I keratin gene cluster on chromosome 17q. After excluding both type I and type II keratin genes we have mapped a locus for this form of palmoplantar keratoderma to chromosome 18q12 with a maximum two-point lod score of 3.3 at θ = 0.00 at D18S536. A cluster of desmosomal cadherin genes has been mapped to this region making them good candidates for this form of PPK. These findings indicate that hyperkeratosis of palms and soles is clinically as well as genetically heterogeneous.

Original languageEnglish
Pages (from-to)1015-1020
Number of pages6
JournalHuman Molecular Genetics
Issue number6
Publication statusPublished - 1 Jun 1995
Externally publishedYes


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