Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene

Article type: Short Communication

Authors: Tumminelli, Gemma^a | Di Donato, Ilaria^a | Guida, Valentina^b | Rufa, Alessandra^a | De Luca, Alessandro^b | Federico, Antonio^{a; *}

Affiliations: [a] Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy | [b] IRCCS-Casa Sollievo della Sofferenza, Mendel Institute, Rome, Italy

Correspondence: [*] Correspondence to: Prof. Antonio Federico, Department of Medicine, Surgery and Neurosciences, University of Siena, VialeBracci 2, 53100 Siena, Italy. Tel.: +39 0577 585763; Fax: +39 0577 40327; E-mail: federico@unisi.it

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.

Keywords: Basal ganglia calcification, GJA1 gene, oculodentodigital dysplasia

DOI: 10.3233/JAD-150424

Journal: Journal of Alzheimer's Disease, vol. 49, no. 1, pp. 27-30, 2016