• M A M van Steensel, L Spruijt, I van der Burgt, R S Bladergroen, M Vermeer, P M Steijlen, and M van Geel.
• Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands. mvst@sder.azm.nl
• Am. J. Med. Genet. A. 2005 Jan 15; 132A (2): 171-4.

AbstractOculo-dento-digital dysplasia (ODDD, OMIM no. 164210) is a pleiotropic disorder characterized mainly by ocular anomalies, varying degrees of finger and toe syndactyly, and enamel defects. It is caused by missense mutations in the gene coding for the gap junction protein connexin 43 or GJA1. Other types of mutations have so far not been reported. Here we describe a Dutch kindred with ODDD showing a new symptom, palmoplantar keratoderma, and associated with a novel 2-bp deletion mutation of GJA1. The dinucleotide deletion 780_781delTG is located in the cytoplasmic C-terminal loop and leads to a frameshift. This is predicted to lead to the production of a slightly truncated protein with 46 incorrect amino acids in the C-terminal cytoplasmic loop (C260fsX307). This novel mutation may explain the presence of skin symptoms.

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