Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report.

ABSTRACT:

Background

Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts. Approximately, 80% of autosomal dominant osteopetrosis type II (ADO-II) patients were usually affected by heterozygous dominant mutations in the chloride voltage-gated channel 7 (ClCN7) gene and present early-onset osteoarthritis or recurrent fractures. In this study, we report a case of persistent joint pain without bone injury or underlying history.

Case summary

We report a 53-year-old female with joint pain who was accidentally diagnosed with ADO-II. The clinical diagnosis was based on increased bone density and typical radiographic features. Two heterozygous mutations in the ClCN7 and T-cell immune regulator 1 (TCIR

SUBMITTER: Gong HP 

PROVIDER: S-EPMC9923847 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature