Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.

ABSTRACT:

Background

Dystrophinopathies caused by variants in the DMD gene are a well-studied muscle disease. The most common type of variant in DMD are large deletions. Very rarely reported forms of variants are chromosomal translocations, inversions and deep intronic variants (DIVs) because they are not detectable by standard diagnostic techniques (sequencing of coding sequence, copy number variant detection). This might be the reason that some clinically and histologically proven dystrophinopathy cases remain unsolved.

Methods

We used whole genome sequencing (WGS) to screen the entire DMD gene for variants in one of two brothers suffering from typical muscular dystrophy with strongly elevated creatine kinase levels.

Results

Although a pathogenic DIV could not be detected, we

SUBMITTER: Zaum AK 

PROVIDER: S-EPMC9544221 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature