title: Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.
abstract: Oculodentodigital dysplasia (ODDD) [MIM 164200] is a rare disorder caused by mutations in the gap junction alpha 1 (GJA1) gene encoding for connexin 43 (Cx43). Typical signs include type III syndactyly, microphtalmia, microdontia, and neurological disturbances. We report a 59-year-old man having clinical symptoms and signs suggestive of ODDD, with some rarely reported features, that is the presence of gross calcifications of basal ganglia and cerebellar nuclei. Mutation analysis of GJA1 gene identified an unreported heterozygous missense mutation [NM_000165.3:c.124 G>C;p.(Glu42Gln)], which may be thought to alter the brain microvessels leading to massive calcifications, as in primary familial brain calcification.
authors.affiliation: Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
authors.forename: Gemma
authors.initials: G
authors.lastname: Tumminelli
authors.affiliation: Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Di Donato
authors.affiliation: IRCCS-Casa Sollievo della Sofferenza, Mendel Institute, Rome, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Guida
authors.affiliation: Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rufa
authors.affiliation: IRCCS-Casa Sollievo della Sofferenza, Mendel Institute, Rome, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: De Luca
authors.affiliation: Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D001479:Basal Ganglia / Q000473:pathology; D002114:Calcinosis; D018031:Connexin 43 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D013576:Syndactyly / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014071:Tooth Abnormalities / Q000235:genetics*
chemical_list: D018031:Connexin 43; C500216:GJA1 protein, human
keywords: Basal ganglia calcification; GJA1 gene; oculodentodigital dysplasia