A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.

ABSTRACT:

Aims

Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered pathogenic RBCK1 variant resulting in dilated cardiomyopathy (DCM) and a comprehensive literature review.

Methods and results

Whole-exome sequencing (WES) was utilized to detect genetic variations in a 7-year-old girl considered the proband. Sanger sequencing was performed to validate the variant in the patient and all the available family members, whether affected or unaffected. The variant's pathogenicity was assessed by conducting a cosegregation analysis within the family with in silico predictive software. WES showed that the proband's R

SUBMITTER: MozafaryBazargany M 

PROVIDER: S-EPMC11098654 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature