Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations.

ABSTRACT:

Background & objectives

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder and is caused mainly by deletion, duplication and point mutations in the DMD gene. Diagnosis of DMD has been a challenge as the mutations in the.

Dmd

gene are heterogeneous and require more than one diagnostic strategy for the validation of the mutation. This study was planned to evaluate the targeted next-generation sequencing (NGS) as a single platform to detect all types of mutations in the DMD gene, thereby reducing the time and costs compared to conventional sequential testing and also provide precise genetic information for emerging gene therapies.

Methods

The study included 20 unrelated families and 22 patients from an Indian population who were screened for DMD based on

SUBMITTER: Aravind S 

PROVIDER: S-EPMC6886143 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature