[A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy].

ABSTRACT:

Objective

To study the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy (BMD)/Duchenne muscular dystrophy (DMD) so as to provide a theoretical basis for disease management, gene therapy, and prenatal diagnosis.

Methods

A retrospective analysis was performed for the clinical data and gene detection results of 52 children with BMD/DMD. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the DMD gene. The children with negative results of MLPA were further screened by exon chip capture combined with next-generation sequencing (NGS). The mothers of 20 probands were validated by sequencing.

Results

The pathogenic genes for BMD/DMD were detected in 50 children by MLPA and NGS, with a detection rate of 96

SUBMITTER: Niu HH 

PROVIDER: S-EPMC7390220 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature