先证者
单倍率不足
PDGFRB公司
医学
阵发性运动障碍
PDGFB公司
基因
内科学
遗传学
突变
病理
运动障碍
生物
疾病
表型
受体
血小板源性生长因子受体
生长因子
帕金森病
作者
Ruonan Duan,Dandan Zhao,Yiming Liu,Chuanzhu Yan
标识
DOI:10.1016/j.parkreldis.2021.10.021
摘要
Primary familial brain calcification (PFBC) is a neurodegenerative disease characterized with calcium deposition in multiple brain regions. Mutations in PDGFB have been discovered in sporadic and familial PFBC cases. While several known variants displayed loss-of function, no complete deletion of platelet-derived growth factor B (PDGFB) has been reported.For the diagnostic purpose, brain computerized tomography or magnetic resonance imaging scanning and whole-genome sequencing were performed on the proband and family members in the pedigree.We identified a heterozygous PDGFB complete deletion in a Chinese pedigree. The proband presented with paroxysmal kinesigenic dyskinesia (PKD), a rare symptom in PFBC. The proband's mother carrying the same mutation was asymptomatic.For the first time, we reported a PFBC with a heterozygous deletion of PDGFB, and provided evidence of haploinsufficiency in the pathogenesis of PFBC.
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