Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.

ABSTRACT:

Purpose

To evaluate the genotypic and phenotypic relationship in a large cohort of OI patients and to compare the differences between eastern and western OI cohorts.

Methods

A total of 671 OI patients were included. Pathogenic mutations were identified, phenotypic information was collected, and relationships between genotypes and phenotypes were analyzed. Literature about western OI cohorts was searched, and differences were compared between eastern and western OI cohorts.

Results

A total of 560 OI patients were identified as carrying OI pathogenic mutations, and the positive detection rate of disease-causing gene mutations was 83.5%. Mutations in 15 OI candidate genes were identified, with COL1A1 (n = 308, 55%) and COL1A2 (n = 164, 29%) being the most common mutation

SUBMITTER: Lin X 

PROVIDER: S-EPMC10776744 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature