title: Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.
abstract: Oculodentodigital dysplasia (ODDD) is a rare, autosomal dominant pleiotropic disorder, caused by mutations in the Connexin 43 (Cx43 or GJA1) gene. Described here is the case of a 10-year-old girl with enamel hypoplasia, typical facies and mental delay, initially thought to be related to an unknown metabolic disorder. Careful clinical re-evaluation revealed a type of ODDD, characterised by the predominance of facial and ophthalmological involvement with mandibular retrognathism, and by the absence of cutaneous hand or foot syndactyly. A novel single-sequence variation (Nt460A>G) in exon 2, resulting in the substitution of alanine for threonine at amino acid 154, was found. These findings confirm once again the highly variable phenotypic expression caused by Cx43 mutations.
authors.affiliation: Department of Oral and Maxillofacial Surgery, University Medical Center Utrecht, Utrecht, The Netherlands. r.j.j.vanes@umcutrecht.nl
authors.forename: R J J
authors.initials: RJ
authors.lastname: van Es
authors.forename: D
authors.initials: D
authors.lastname: Wittebol-Post
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D018031:Connexin 43 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics; D004252:DNA Mutational Analysis; D003744:Dental Enamel Hypoplasia / Q000235:genetics; D005124:Eye Abnormalities / Q000150:complications / Q000235:genetics*; D019066:Facies; D005260:Female; D006801:Humans; D018126:Odontodysplasia / Q000150:complications / Q000235:genetics*; D063173:Retrognathia / Q000150:complications / Q000235:genetics*; D013576:Syndactyly / Q000150:complications / Q000235:genetics*
chemical_list: D018031:Connexin 43