Dataset Information

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

ABSTRACT: Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 ( theta =0.0) for marker D12S368. This region includes the keratin gene cluster, which we screened for mutations. We identified loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family members and in six unrelated patients with DDD. These represent the first identified mutations that lead to haploinsufficiency in a keratin gene. The identification of loss-of-function mutations, along with the results from additional functional studies, suggest a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle transport, and nuclear anchorage.

SUBMITTER: Betz RC

PROVIDER: S-EPMC1380294 | biostudies-literature | 2006 Mar

REPOSITORIES: biostudies-literature

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Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

Betz Regina C RC Planko Laura L Eigelshoven Sibylle S Hanneken Sandra S Pasternack Sandra M SM Bussow Heinrich H Van Den Bogaert Kris K Wenzel Joerg J Braun-Falco Markus M Rutten Arno A Rogers Michael A MA Ruzicka Thomas T Nöthen Markus M MM Magin Thomas M TM Kruse Roland R

American journal of human genetics 20060119 3

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 ( theta =0.0) for marker D12S368. This region includes the keratin gene cluster, which we screened for mutations. We identified loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family mem ...[more]

PMID: 16465624

Dataset Information

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

Publications

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

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