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

Abstract

In contrast to Western patients, Chinese patients have an earlier onset age, more severe symptoms, and lower frequency of <i>SQSTM1</i> gene mutation (4.0%). Moreover, a novel heterozygous missense mutation in <i>HNRNPA2B1</i> gene was identified in one male patient with isolated bone phenotype. As for other genetic factors, it was indicated that <i>WNT16</i>, <i>RYR3</i>, <i>RYR1</i>, <i>NUP205</i>, <i>CAPN2</i> and <i>NUP214</i> genes may be potential pathogenic genes, pathways of neurodegeneration and ALS may play a vital role in the pathogenesis of PDB.