A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.

ABSTRACT:

Background

Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous bone disease characterized by bone fragility and recurrent fractures. X-linked inherited OI with mutation in PLS3 is so rare that its genotype-phenotype characteristics are not available.

Methods

We designed a novel targeted next-generation sequencing (NGS) panel with the candidate genes of OI to detect pathogenic mutations and confirmed them by Sanger sequencing. The phenotypes of the patients were also investigated.

Results

The proband, a 12-year-old boy from a nonconsanguineous family, experienced multiple fractures of long bones and vertebrae and had low bone mineral density (BMD Z-score of -3.2 to -2.0). His younger brother also had extremity fractures. A novel frameshift mu

SUBMITTER: Hu J 

PROVIDER: S-EPMC7767536 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature