Premium
Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair
Author(s) -
Kjaer Klaus W.,
Hansen Lars,
Eiberg Hans,
Leicht Pernille,
Opitz John M.,
Tommerup Niels
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.20614
Subject(s) - connexin , craniofacial , mutation , ectodermal dysplasia , genetics , biology , dysplasia , gene , gap junction , intracellular
Oculo–dento–digital dysplasia (ODDD) [OMIM 164200] is a rare autosomal dominant pleiotropic disorder comprising ocular, craniofacial, and digital anomalies, caused by mutations in the gap junction alpha‐1 gene ( GJA1 or Connexin 43 ( CX43 )) [Paznekas et al., 2003]. In a Danish family affected over five generations, we found a novel mutation, 286G → A, resulting in Val96Met. We provide an easy method for mutation detection by use of the restriction enzyme Nde1 and discuss possible pathogenetic mechanisms, arguing that loss of function cannot be excluded. This is the second article reporting ODDD mutations. © 2004 Wiley‐Liss, Inc.