Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition:SLC20A2,PDGFRB,PDGFB, andXPR1 inherited as autosomal-dominant trait, whileMYORG andJAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants inSLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations inSLC20A2.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research