J Korean Child Neurol Soc.  2014 Mar;22(1):25-28.

Whole Exome Sequencing of a Patient with Duchenne Muscular Dystrophy

• Choi BS
• Hwang SK

Abstract

Duchenne muscular dystrophy (DMD) is the most common and lethal dystrophy in childhood, caused by mutations in the dystrophin (DMD) gene. Multiplex ligation dependent probe amplification (MLPA) or array comparative genome hybridization (aCGH) is widely used as an initial molecular diagnostic tool. If no deletions or duplications are found in MLPA or aCGH, the samples must be subjected to a second test of direct sequencing. Direct sequencing of the DMD gene, however, is time-consuming, high-cost, and can be inconclusive. Here, we performed whole exome sequencing on a patient with progressive muscle weakness whose MLPA result was negative; the result revealed a rare frame shift mutation. Direct sequencing on the patient's mother showed the same mutation. Whole exome sequencing can be a new diagnostic routine for DMD patients with negative MLPA3.

Keyword

Duchenne muscular dystrophy; dystrophin; High-Throughput DNA Sequencing; genetics; mutation

MeSH Terms

Comparative Genomic Hybridization
Dystrophin
Exome*
Frameshift Mutation
Genetics
High-Throughput Nucleotide Sequencing
Humans
Mothers
Multiplex Polymerase Chain Reaction
Muscle Weakness
Muscular Dystrophy, Duchenne*
Pathology, Molecular
Dystrophin