Identification and functional characterization of a novel pathogenic <i>COL1A1</i> splicing variant in a Chinese family with osteogenesis imperfecta.

ABSTRACT:

Background

Osteogenesis imperfecta (OI) is a hereditary disorder primarily caused by mutations in COL1A1 or COL1A2, leading to bone fragility and deformities. Although numerous pathogenic variants have been identified, novel mutations in specific populations remain underreported, complicating diagnosis and genetic counseling.

Methods

A Chinese family with mild type I OI was recruited. Whole-exome sequencing and Sanger sequencing were used to identify and validate a novel splice-site variant in COL1A1. Functional effects were assessed using two minigene constructs (pcMINI-COL1A1 and pcMINI-N-COL1A1) transfected into HEK293T cells, followed by reverse transcription-polymerase chain reaction (RT-PCR) and sequencing of transcripts.

Results</

SUBMITTER: Nie H 

PROVIDER: S-EPMC12919943 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature