A novel mutation in MYORG leads to primary familial brain calcification and cerebral infarction.

Primary familial brain calcification (PFBC) is a rare inherited disorder characterized by bilateral calcification mainly in the basal ganglia, thalamus, and cerebellar nuclei. Recently, the MYORG gene, as the first autosomal recessive causal gene for PFBC, was reported in six unrelated Chinese families. Patients with PFBC rarely present with cerebrovascular disease. Here, we report a young patient with PFBC who carried a novel homozygous mutation in the MYORG gene presenting with cerebral infarction involving the posterior limb of the right internal capsule. Brain computed tomography (CT) demonstrated symmetric calcifications in the basal ganglia, thalamus, midbrain, pons, cerebellum and frontal lobes. We found one homozygous mutation in the MYORG gene (NM_020702.3 exon2: c.830delC; p.P277Qfs*3) in this patient by Sanger sequencing. Currently, the association of PFBC and cerebral infarction, as well as the physiological role of the MYORG gene, is not clear and worth special attention and further investigation.