A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis.

ABSTRACT: Autosomal dominant osteopetrosis type II (ADO II), characterized by increased bone mass and density, is caused by mutations in the chloride channel 7 (CLCN7) gene. In this study, a novel missense variant in CLCN7 (c.1678A > G; p.Met560Val) was identified in three symptomatic subjects and one carrier of a Chinese family with ADO II. Notably, bone formation markers, including osteocalcin and total procollagen type N-terminal propeptide, have increased or presented at the upper limit of the normal range in the three patients. Serum factors secreted by osteoclast lineage cells and affecting the CD31^hiEMCN^hi vessel formation, such as tartrate-resistant acid phosphatase 5b, platelet-derived growth factor-BB, vascular endothelial growth factor, and SLIT3, had a

SUBMITTER: Peng H 

PROVIDER: S-EPMC7701216 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature