title: Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.
abstract: 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.
authors.affiliation: Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute Building 24.4, Department of Medical Genetics, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark. klaus@medgen.ku.dk
authors.forename: Klaus W
authors.initials: KW
authors.lastname: Kjaer
authors.forename: Lars
authors.initials: L
authors.lastname: Hansen
authors.forename: Hans
authors.initials: H
authors.lastname: Eiberg
authors.forename: Pernille
authors.initials: P
authors.lastname: Leicht
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D018031:Connexin 43 / Q000235:genetics*; D017931:DNA Primers; D003718:Denmark; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D014071:Tooth Abnormalities / Q000235:genetics* / Q000473:pathology
chemical_list: D018031:Connexin 43; D017931:DNA Primers