Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
Muscle Nerve
; 55(5): 727-734, 2017 05.
Article
en En
| MEDLINE
| ID: mdl-27593222
ABSTRACT
INTRODUCTION:
Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene.METHODS:
We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing.RESULTS:
Overall, 117 different deletions, 48 duplications, and 90 pathogenic sequence variations, including 30 novel variations, were identified. Deletions and duplications accounted for 65.4% and 13.3% of Korean dystrophinopathy, respectively, suggesting that the incidence of large rearrangements in dystrophin is similar among different ethnic groups. We also detected sequence variations in >100 probands. The small variations were dispersed across the whole gene, and 12.3% were nonsense mutations.CONCLUSIONS:
Precise genetic characterization in patients with DMD/BMD is timely and important for implementing nationwide registration systems and future molecular therapeutic trials in Korea and globally. Muscle Nerve 55 727-734, 2017.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Distrofina
/
Distrofia Muscular de Duchenne
/
Mutación
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Muscle Nerve
Año:
2017
Tipo del documento:
Article