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

Gemma Tumminelli, Ilaria Di Donato, Valentina Guida, Alessandra Rufa, Alessandro De Luca, Antonio Federico

Research output: Contribution to journalArticlepeer-review

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 GC;p.(Glu42Gln)], which may be thought to alter the brain microvessels leading to massive calcifications, as in primary familial brain calcification.

Original languageEnglish
Pages (from-to)27-30
Number of pages4
JournalJournal of Alzheimer's Disease
Volume49
Issue number1
DOIs
Publication statusPublished - 2015

Keywords

  • Basal ganglia calcification
  • GJA1 gene
  • oculodentodigital dysplasia

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology

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