Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.

ABSTRACT:

Background

Patients with Duchenne muscular dystrophy (DMD) usually have severe and fatal symptoms. At present, there is no effective treatment for DMD, thus it is very important to avoid the birth of children with DMD by effective prenatal diagnosis. We identified a de novo DMD gene mutation in a Chinese family, and make a prenatal diagnosis.

Methods

First, multiplex ligation-dependent probe amplification (MLPA) was applied to analyze DMD gene exon deletion/duplication in all family members. The coding sequences of 79 exons in DMD gene were analyzed by Sanger sequencing in the patient; and then according to DMD gene exon mutation in the patient, DMD gene sequencing was performed in the family members. On the basis of results above, the pathogenic mutation in DMD gene was ide

SUBMITTER: Li T 

PROVIDER: S-EPMC5815683 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature