Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.

ABSTRACT:

Objective

Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the dystrophin gene (DMD). Hypermethylated CGG expansions within DIP2B 5' UTR are associated with an intellectual development disorder. Here, we demonstrate the diagnostic utility of genomic short-read sequencing (SRS) and transcriptome sequencing to identify a novel DMD structural variant (SV) and a DIP2B CGG expansion in a patient with DMD for whom conventional diagnostic testing failed to yield a genetic diagnosis.

Methods

We performed genomic SRS, skeletal muscle transcriptome sequencing, and targeted programmable long-read sequencing (LRS).

Results

The proband had a typical DMD clinical presentation, autism spectrum disorder (ASD), and dystrophinopathy on m

SUBMITTER: Folland C 

PROVIDER: S-EPMC10117699 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature