title: A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.
abstract: Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused by GJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation c.C31A resulting in p.L11F substitution. Our report provides evidence on the importance of this highly conserved amino acid residue for the proper functioning of GJA1 protein.
authors.affiliation: Chair and Department of Medical Genetics, Poland. jamsheer@wp.pl
authors.forename: A
authors.initials: A
authors.lastname: Jamsheer
authors.forename: M
authors.initials: M
authors.lastname: Wisniewska
authors.forename: A
authors.initials: A
authors.lastname: Szpak
authors.forename: G
authors.initials: G
authors.lastname: Bugaj
authors.forename: M R
authors.initials: MR
authors.lastname: Krawczynski
authors.forename: B
authors.initials: B
authors.lastname: Budny
authors.forename: A
authors.initials: A
authors.lastname: Wawrocka
authors.forename: A
authors.initials: A
authors.lastname: Latos-Bieleńska
mesh_terms: D002675:Child, Preschool; D018031:Connexin 43 / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*
chemical_list: D018031:Connexin 43; C500216:GJA1 protein, human