Article
Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43.
American journal of medical genetics. Part A - 15 Feb 2007
Vreeburg M, de Zwart-Storm E A, Schouten M I, Nellen R G L, Marcus-Soekarman D, Devies M, van Geel M, van Steensel M A M
Abstract excerpt
Oculo-dento-digital dysplasia (ODDD, OMIM no.164210) is a pleiotropic disorder caused by mutations in the GJA1 gene that codes for the gap junction protein connexin 43. While the gene is highly expressed in skin, ODDD is usually not associated with skin symptoms. We recently described a family with ODDD and palmoplantar keratoderma. Interestingly, mutation carriers had a novel dinucleotide deletion in the GJA1...
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