Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing

Dystrophin (DMD) gene is the largest gene containing 79 exons involving various mutation types and regions, and targeted next-generation sequencing (NGS) was employed in detecting DMD gene mutation in the present study. A literature-annotated disease nonsense mutation (c.10141C>T, NM_004006.1) in exon 70 that has been reported as Duchenne Muscular Dystrophy (DMD)-causing mutation was found in our two patients, the proband and his cousin. In the present study two main methods were used, the next-generation sequencing and the classic Sanger sequencing. The exon capture followed by HiSeq2000 sequencing was specifically used in this study. Combined applications of the next-generation sequencing platform and bioinformatics are proved to be effective methods for DMD diagnosis.

► Next-generation sequencing platform and bioinformatics are applied in this study. ► A nonsense mutation is identified by next-generation sequencing in a pedigree. ► The nonsense mutation, c.10141C>T (p.Arg3381X), is located at the exon 70. ► This is a first report of truncated dystrophin lacking C-terminal domain in China.