Premium
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies
Author(s) -
Zhong Jingzi,
Xu Tiantian,
Chen Gang,
Liao Haixia,
Zhang Jiapeng,
Lan Dan
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25435
Subject(s) - multiplex ligation dependent probe amplification , exon , duchenne muscular dystrophy , muscular dystrophy , dystrophin , genetics , gene duplication , point mutation , biology , gene , medicine , mutation
Duchenne and Becker muscular dystrophies (DMD and BMD) are X‐linked myopathies caused by mutations of the dystrophin gene. Methods Multiplex ligation‐dependent probe amplification (MLPA) combined with next‐generation sequencing (NGS) of the exons of the dystrophin gene were performed in 92 suspected DMD/BMD patients. Patients with negative results were subjected to additional muscle diseases panel tests. Results DNA rearrangements were detected in 65 (70.65%) patients using MLPA. The deletions primarily clustered at exons 45–55, followed by exons 2–19. The duplication locations were in contrast to previous studies, which involved the 3′ end of the gene. A total of 21 cases with point mutations were detected by NGS analysis. Furthermore, 6 previously unreported mutations were detected. Limb‐girdle muscular dystrophy was confirmed in 2 patients after analysis with the muscle diseases panel. Conclusions MLPA combined with NGS was effective for detection of the mutations in dystrophin gene exons. Muscle Nerve 56 : 117–121, 2017.