Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta.

ABSTRACT: In 115 adult patients with classical OI, reduced bone structure was observed in patients with COL1A1 variants compared to those with COL1A2 variants. In addition, bone structure in the distal radius was differentially affected in individuals with quantitative COL1A1/2 variants in comparison to patients carrying qualitative variants.

Purpose

Classical osteogenesis imperfecta (OI) is genetically determined by pathogenic variants in the COL1A1/2 genes encoding collagen type I. Although genetic testing is widely used today, the genotype-phenotype correlation is still a matter of debate.

Methods

A retrospective analysis was carried out in a total of 115 adult OI patients who presented to our outpatient clinic. Only patients with available genetic test results and clinically diagno

SUBMITTER: Bartosik M 

PROVIDER: S-EPMC12847233 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature