A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification. (November 2021)

• Record Type: Journal Article
• Authors: Duan, Ruo-Nan; Zhao, Dan-Dan; Liu, Yi-Ming; Yan, Chuan-Zhu
• Is Part Of: Parkinsonism & related disorders. Volume 92(2021)
• Page Start: 83
• Page End: 87
• Publication Date: 2021-11
• Subjects: Platelet-derived growth factor B -- Paroxysmal kinesigenic dyskinesia -- Primary familial brain calcification -- Haploinsufficiency; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2021.10.021
• Languages: English
• ISSNs: 1353-8020

Abstract

Abstract: Background: 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. Methods: 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. Results: 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. Conclusions: For the first time, we reported a PFBC with a heterozygous deletion of PDGFB, and provided evidence of haploinsufficiency in the pathogenesis of PFBC.