title: A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma.
abstract: 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.
authors.affiliation: Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands. mvst@sder.azm.nl
authors.forename: M A M
authors.initials: MA
authors.lastname: van Steensel
authors.forename: L
authors.initials: L
authors.lastname: Spruijt
authors.forename: I
authors.initials: I
authors.lastname: van der Burgt
authors.forename: R S
authors.initials: RS
authors.lastname: Bladergroen
authors.forename: M
authors.initials: M
authors.lastname: Vermeer
authors.forename: P M
authors.initials: PM
authors.lastname: Steijlen
authors.forename: M
authors.initials: M
authors.lastname: van Geel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D018031:Connexin 43 / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities; D005192:Family Health; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000473:pathology*; D017880:Limb Deformities, Congenital / Q000473:pathology*; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: D018031:Connexin 43; D004247:DNA