Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I.

ABSTRACT: Osteogenesis imperfecta type I (OI-I) is a rare genetic disorder characterized by skeletal deformity, bone fragility, blue sclerae, dentinogenesis imperfecta, and hearing loss. The current study aimed to confirm the clinical diagnosis and genetic cause of OI-I in a four-generation Chinese family. Clinical investigation and pedigree analysis were conducted to characterize the phenotypic manifestations of a Chinese family with OI-I. Follow-up audiometry and imaging tests were used to evaluate the postoperative outcomes of stapes surgery in the proband with otosclerosis. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variants and for cosegregating analysis. We described in detail the clinical features of the collected family with autosomal dominan

SUBMITTER: Niu Z 

PROVIDER: S-EPMC9482389 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature