Whole Exome Sequencing of a Patient with Duchenne Muscular Dystrophy.

Choi,  Bong Seok; Hwang,  Su Kyeong

doi:2014.22.1.25

Ann Child Neurol > Volume 22(1); 2014 > Article

Case Report

Journal of the Korean Child Neurology Society 2014;22(1):25-28.
DOI: https://doi.org/10.26815/jkcns.2014.22.1.25 Published online March 30, 2014.

Whole Exome Sequencing of a Patient with Duchenne Muscular Dystrophy.

Bong Seok Choi, Su Kyeong Hwang

¹Department of Pediatrics, Kyungpook National University, School of Medicine, Daegu, Korea.
²Department of Pediatrics, Kyungpook National University Hospital, Daegu, Korea. neurobaby79@gmail.com

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.

Key Words: Duchenne muscular dystrophy, dystrophin, High-Throughput DNA Sequencing, genetics, mutation