Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.

ABSTRACT:

Introduction

Osteogenesis imperfecta (OI) is a rare mendelian skeletal dysplasia with autosomal dominant or recessive inheritance pattern, and almost the most common primary osteoporosis in prenatal settings. The diversity of clinical presentation and genetic etiology in prenatal OI cases presents a challenge to counseling yet has seldom been discussed in previous studies.

Methods

Ten cases with suspected fetal OI were enrolled and submitted to a genetic detection using conventional karyotyping, chromosomal microarray analysis (CMA), and whole-exome sequencing (WES). Sanger sequencing was used as the validation method for potential diagnostic variants. In silico analysis of specific missense variants was also performed.

Results

The karyotyping and CMA results of these

SUBMITTER: Yang K 

PROVIDER: S-EPMC9498730 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature