Premium
A 2‐bp deletion in the GJA1 gene is associated with oculo‐dento‐digital dysplasia with palmoplantar keratoderma
Author(s) -
van Steensel M.A.M.,
Spruijt L.,
van der Burgt I.,
Bladergroen R.S.,
Vermeer M.,
Steijlen P.M.,
van Geel M.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30412
Subject(s) - palmoplantar keratoderma , frameshift mutation , genetics , biology , syndactyly , missense mutation , gene , mutation
Oculo‐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. © 2004 Wiley‐Liss, Inc.