Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone.

ABSTRACT:

Objective

To evaluate the clinical features of sporadic Paget's disease of bone (PDB) in China and further explore the underlying genetic abnormalities of the disease.

Methods

Clinical characteristics, biochemical indices, bone turnover markers and radiographic examinations of the patients were collected. Genomic DNA was extracted from peripheral blood and whole-exome sequencing was carried out to identify the potential pathogenic genes. The pathogenicity of the variants was thereafter investigated by bioinformatics analysis.

Results

A total of 50 patients (57.20 ± 15.52 years, male/female: 1.63: 1) with PDB were included and the mean onset age was 48.34 years (48.34 ± 17.24 years). 94.0% of the patients exhibited symptomatic patterns described as bone pain (86.0%), e

SUBMITTER: Tao X 

PROVIDER: S-EPMC8959906 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature