title: Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
abstract: Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder characterized by developmental anomalies of the face, the eyes, the limbs and the teeth. Patients with ODDD usually present with complete syndactyly of the fourth and fifth fingers (type III syndactyly), ocular changes, abnormalities of primary and permanent dentition and specific craniofacial malformations. Mutations in GJA1, a gene that encodes the gap junction protein connexin 43, are responsible for ODDD. Gap junctions are assemblies of intercellular channels that allow exchange of various ions and signaling molecules between cells. In this way, gap junctions play an important regulatory role in a variety of physiologic and developmental processes. We identified three novel and one previously described GJA1 mutation in two large ODDD families and two sporadic ODDD cases.
authors.affiliation: Department of Orthopaedics, University Hospital Pellenberg, Weligerveld 1, B-3212 Pellenberg, Belgium. philippe.debeer@uz.kuleuven.ac.be
authors.forename: Ph
authors.initials: P
authors.lastname: Debeer
authors.forename: H
authors.initials: H
authors.lastname: Van Esch
authors.forename: C
authors.initials: C
authors.lastname: Huysmans
authors.forename: E
authors.initials: E
authors.lastname: Pijkels
authors.forename: L
authors.initials: L
authors.lastname: De Smet
authors.forename: W
authors.initials: W
authors.lastname: Van de Ven
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: J-P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D002648:Child; D018031:Connexin 43 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D018126:Odontodysplasia / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013576:Syndactyly
chemical_list: D018031:Connexin 43; C500216:GJA1 protein, human