Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.

ABSTRACT:

Background

An accurate genetic diagnosis of Becker muscular dystrophy (BMD) can be sometimes challenging due to deep intronic DMD variants. Here, we report on the genetic diagnosis of a BMD patient with a novel deep-intronic splice-altering variant in DMD.

Methods

The index case was a 3.8-year-old boy who was suspected of having a diagnosis of BMD based on his clinical, muscle imaging, and pathological features. Routine genomic detection approaches did not detect any disease-causing variants in him. Muscle-derived DMD mRNA studies, followed by genomic Sanger sequencing and in silico bioinformatic analyses, were performed in the patient.

Results

DMD mRNA studies detected a cryptic exon-containing transcript and normally spliced DMD transcript in the patient. The crypti

SUBMITTER: Xie Z 

PROVIDER: S-EPMC10749487 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature