Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.

Primary familial brain calcification (PFBC) is a rare inheritable neurodegenerative disease characterized by bilateral calcification in different brain regions and by a range of neuropsychiatric symptoms. Six causative genes of PFBC (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2) have been identified. Sanger sequencing was used to identify the causative genes associated with PFBC in this study. We describe the first PFBC case with both SLC20A2 and PDGFRB heterozygous mutations. Notably, this patient with the digenic mutation (who was only 5 years old) showed severe brain calcification and migraine, whereas the patient's parents, who each carried a heterozygous mutation in SLC20A2 or PDGFRB, exhibited varying degrees of brain calcification but were clinically asymptomatic. This case highlights the digenic influences on the characteristics of PFBC patients. © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

Citation

Hao Sun, Zhijian Cao, Ruixi Gao, Yulei Li, Rui Chen, Shiyue Du, Tingbin Ma, Junhan Wang, Xuan Xu, Jing Yu Liu. Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl. Molecular genetics & genomic medicine. 2021 May;9(5):e1670

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PMID: 33793087

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