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

Molecular genetics & genomic medicine - 1 May 2021

Sun Hao, Cao Zhijian, Gao Ruixi, Li Yulei, Chen Rui, Du Shiyue, Ma Tingbin, Wang Junhan, Xu Xuan, Liu Jing Yu

Abstract excerpt

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...

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Brain
Calcinosis
Child
Heterozygote
Migraine Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptor, Platelet-Derived Growth Factor beta

Sodium-Phosphate Cotransporter Proteins, Type III

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Identifiers

PMID: 33793087
DOI: 10.1002/mgg3.1670
PMCID: PMC8172206

Genes

PDGFRB
SLC20A2
JAM2
MYORG
PDGFB
XPR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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