Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.

Abstract excerpt

Duchene muscular dystrophy (DMD) is a progressive muscle wasting disease, caused by mutations in the dystrophin (DMD) on the X chromosome. One-third of patients are estimated to have de novo mutations. To provide in-depth genetic counseling, the comprehensive identification of mutations is mandatory. However, many DMD patients did not undergo genetic diagnosis because detailed genetic diagnosis was not available...

Topics

• Adult
• Codon, Nonsense
• Dystrophin
• Female
• Fetal Blood
• Genetic Testing
• High-Throughput Nucleotide Sequencing
• Humans
• Male
• Mosaicism
• Muscular Dystrophy, Duchenne
• Mutation