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

Abstract

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.

Keywords:

• Primary familial brain calcification
• MYORG gene
• cerebral infarction
• neurovascular unit

Acknowledgements

We would like to thank the patients and her families for their participation in the study.

Disclosure statement

The authors report no conflicts of interest.

Additional information

Funding

This study was supported by the science and technology project of education department of Jiangxi Province (170009 and 180045) and key research and development plan of science and technology department of Jiangxi province (20202BBGL73104).