Identification of Compound Heterozygous Variants in OBSCN Gene Associated With Rhabdomyolysis: A Case Report.

ABSTRACT:

Background

The obscurin protein encoded by the OBSCN gene is an important structural protein in the regulation of myocyte sarcoplasmic nodule stability and sarcoplasmic reticulum function and is particularly closely associated with calcium ion (Ca²⁺) signaling. With increasing genomic studies, pathogenic variants in the OBSCN gene have been shown to be associated with a variety of inherited diseases, such as cardiomyopathy. However, case reports of its variants causing rhabdomyolysis are more limited.

Methods

We performed whole exome sequencing on a patient with exercise-induced rhabdomyolysis to identify possible causative gene variants. In addition, functional prediction of the pathogenicity of the variants was performed by combining multiple bioinformatics anal

SUBMITTER: Sun X 

PROVIDER: S-EPMC11971531 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature