College of Life Science and Technology, Huazhong University of Science and Technology (HUST), Wuhan, China.
Department of Clinical Laboratory, Hospital of HUST, Wuhan, China.
Mol Genet Genomic Med. 2021 May;9(5):e1670. doi: 10.1002/mgg3.1670. Epub 2021 Apr 1.
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.
原发性家族性脑钙化为一种罕见的遗传性神经退行性疾病，其特征为双侧脑区钙化和一系列神经精神症状。现已鉴定出 6 个原发性家族性脑钙化的致病基因（SLC20A2、PDGFRB、PDGFB、XPR1、MYORG 和 JAM2）。
本研究采用 Sanger 测序法鉴定与原发性家族性脑钙化相关的致病基因。
我们描述了首例同时携带 SLC20A2 和 PDGFRB 杂合突变的原发性家族性脑钙化病例。值得注意的是，这名携带双基因突变（年仅 5 岁）的患者表现出严重的脑钙化和偏头痛，而其父母各携带 SLC20A2 或 PDGFRB 杂合突变，脑钙化程度不一，但无临床症状。
该病例强调了双基因对原发性家族性脑钙化患者特征的影响。
