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

Mol Genet Genomic Med. 2021 May;9(5):e1670. doi: 10.1002/mgg3.1670. Epub 2021 Apr 1.

Abstract

Background: 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.

Methods: Sanger sequencing was used to identify the causative genes associated with PFBC in this study.

Results: 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.

Conclusion: This case highlights the digenic influences on the characteristics of PFBC patients.

Keywords: PDGFRB; SLC20A2; PFBC; migraine; primary familial brain calcification.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology*
  • Calcinosis / genetics*
  • Calcinosis / pathology
  • Child
  • Female
  • Heterozygote
  • Humans
  • Migraine Disorders / genetics*
  • Migraine Disorders / pathology
  • Mutation
  • Receptor, Platelet-Derived Growth Factor beta / genetics*
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics*

Substances

  • SLC20A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type III
  • PDGFRB protein, human
  • Receptor, Platelet-Derived Growth Factor beta