A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene.

ABSTRACT:

Background

The genetic diagnosis of Duchenne muscular dystrophy (DMD) has been complicated by the large size of the gene and its heterogeneous mutational spectrum. Multiplex PCR and multiplex ligation-dependent probe amplification (MLPA) are two well-established mutation screening methods. Here, we applied targeted next-generation sequencing (NGS) to clarify discrepant results between multiplex PCR and MLPA in a Chinese patient with DMD.

Methods

MLPA was performed to confirm multiplex PCR results obtained previously. Targeted NGS was then used to analyze the full-length DMD gene including introns.

Results

Multiplex PCR had previously identified an apparent deletion of exon 43 in the patient with DMD, but current MLPA indicated that exon 43 was present. Targeted NGS to

SUBMITTER: Liu C 

PROVIDER: S-EPMC6816888 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature