Title | Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Authors | Tumminelli, G, Di Donato, I, Guida, V, Rufa, A, De Luca, A, Federico, A |
Journal | J Alzheimers Dis |
Volume | 49 |
Issue | 1 |
Pagination | 27-30 |
Date Published | 2016 |
ISSN | 1875-8908 |
Keywords | Basal Ganglia, Calcinosis, Connexin 43, Craniofacial Abnormalities, DNA Mutational Analysis, Eye Abnormalities, Fingers, Foot Deformities, Congenital, Humans, Male, Middle Aged, Mutation, Missense, Syndactyly, Tomography, X-Ray Computed, Tooth Abnormalities |
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. |
DOI | 10.3233/JAD-150424 |
Alternate Journal | J. Alzheimers Dis. |
PubMed ID | 26444782 |