Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges.

ABSTRACT:

Objective

Large deletions and duplications account for 65%-80% of pathogenic Duchenne muscular dystrophy (DMD) variants. A nationwide carrier screening for DMD was initiated in Israel in 2020. We assessed the carrier rate and spectrum of variants detected in a cohort of women screened for DMD carrier status and analyzed screening efficacy and challenges related to DMD population screening.

Methods

A cohort of 12,362 women were tested at a single institute using multiplex ligation-dependent probe amplification based copy number analysis of the 79 DMD exons. Consecutive sequencing of the primer region was performed when a single exon deletion was suspected.

Results

Deletions involving multiple exons were detected in seven cases and duplications involving multiple exons

SUBMITTER: Cohen G 

PROVIDER: S-EPMC9546335 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature