A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification

Abstract

BackgroundPrimary familial brain calcification (PFBC) is a rare neurodegenerative disease characterized by bilateral calcifications mostly located in the basal ganglia and in the thalami, cerebellum and subcortical white matter. Clinical manifestations of this disease include a large spectrum of movement disorders and neuropsychiatric disturbances. PFBC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. Three causative genes have been reported: SLC20A2, PDGFRB and PDGFB. ObjectiveWe screened three PFBC Italian families for mutations in the SLC20A2, PDGFRB and PDGFB genes. MethodsPhenotypic data were obtained by neurologic examination, CT scan and magnetic resonance imaging. Mutation screening of SLC20A2, PDGFRB and PDGFB was performed by sequencing. ResultsWe identified a new heterozygous deletion c.21_21delG (p.L7Ffs*10) in SLC20A2 gene in one of these families. No mutations were detected in the other two families. ConclusionsOur data confirm that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.