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The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron

Authors

  • M.A.M. van Steensel,

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    1. Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    2. GROW Research Institute for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands
    • Department of Dermatology, Maastricht University Medical Center, PO Box 5800, 6202 AZ Maastricht, The Netherlands.
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  • A.P. Oranje,

    1. Department of Dermatology, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
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  • J.G. van der Schroeff,

    1. Department of Dermatology, Bronovo Hospital, The Hague, The Netherlands
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  • A. Wagner,

    1. Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
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  • M. van Geel

    1. Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    2. GROW Research Institute for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands
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  • How to Cite this Article: van Steensel MAM, Oranje AP, van der Schroeff JG, Wagner A, van Geel M. 2009. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. Am J Med Genet Part A 149A:657–661.

Abstract

Progressive symmetric erythrokeratoderma of Gottron (PSEK) is commonly distinguished from erythrokeratodermia variabilis Mendes da Costa (EKV). However, conclusive proof that the disorders are identical is still lacking. We performed mutation analysis and microsatellite haplotyping in two independently referred patients with PSEK and three patients from a previously published family with EKV. All patients had the same mutation in the GJB4 gene causing the amino acid substitution p.Gly12Asp (G12D). Haplotype analysis showed that all five patients had the same allelic haplotype over 2 Mb covering the disease locus. Apparently, the same GJB4 mutation may cause either an EKV or a PSEK phenotype. A single ancestral founder might have introduced EKV in the Netherlands. © 2009 Wiley-Liss, Inc.

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