title: A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.
abstract: Oculo-dento-digital dysplasia (ODDD) is a rare autosomal dominant congenital disorder mainly affecting the development of the face, eyes, skeletal system, heart and dentition. ODDD has been mapped to chromosome 6q22-q24 and germline mutations have been identified in the connexin 43 gene, GJA1. Abnormalities of the skin, hair, and nails have been recognized in ODDD but are often easily overlooked. We report an ODDD patient with curly hair, early trichorrhexis nodosa and discrete keratoderma. Molecular genetic studies revealed a novel GJA1 mutation affecting the amino terminus of the gap junction protein alpha-1 (Cx43). In the light of the cutaneous findings in our patient and based on recent ectodermal dysplasia classification systems, we propose to include ODDD in the group of ectodermal dysplasias.
authors.affiliation: Department of Dermatology, Lehigh Valley Hospital, Allentown, Pennsylvania, USA. Susan.C.Kelly@Hitchcock.org
authors.forename: Susan C
authors.initials: SC
authors.lastname: Kelly
authors.forename: Paulina
authors.initials: P
authors.lastname: Ratajczak
authors.forename: Matthew
authors.initials: M
authors.lastname: Keller
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Purcell
authors.forename: Thomas
authors.initials: T
authors.lastname: Griffin
authors.forename: Gabriele
authors.initials: G
authors.lastname: Richard
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D002896:Chromosomes, Human, Pair 6; D018031:Connexin 43 / Q000235:genetics*; D017931:DNA Primers; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D012868:Skin Abnormalities / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics*
chemical_list: D018031:Connexin 43; D017931:DNA Primers; C500216:GJA1 protein, human