Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer.

Modulation of dystrophin pre-mRNA splicing is an attractive strategy to ameliorate the severe phenotype of Duchenne muscular dystrophy (DMD), although this requires a better understanding of the mechanism of splicing regulation. Aberrant splicing caused by gene mutations provides a good model to study splicing regulatory cis-elements and binding proteins. In this study, we identified skipping of in-frame exon 25 induced by a nonsense mutation (NM_004006.

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.

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.

[Survey of the prevalence of chronic prostatitis in men with premature ejaculation].

Objective: To investigate the prevalence of chronic prostatitis in men with premature ejaculation.

Methods: The segmented urine specimens before and after prostatic massage and the expressed prostatic secretion specimens from 106 patients with premature ejaculation and 38 controls were evaluated by microscopic and/or bacteriological studies. The prevalence of premature ejaculation was also investigated in 120 patients with chronic prostatitis.