[A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy].
Zhongguo Dang Dai Er Ke Za Zhi
; 22(6): 602-607, 2020 Jun.
Article
en Zh
| MEDLINE
| ID: mdl-32571459
ABSTRACT
OBJECTIVE:
To study the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy (BMD)/Duchenne muscular dystrophy (DMD) so as to provide a theoretical basis for disease management, gene therapy, and prenatal diagnosis.METHODS:
A retrospective analysis was performed for the clinical data and gene detection results of 52 children with BMD/DMD. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the DMD gene. The children with negative results of MLPA were further screened by exon chip capture combined with next-generation sequencing (NGS). The mothers of 20 probands were validated by sequencing.RESULTS:
The pathogenic genes for BMD/DMD were detected in 50 children by MLPA and NGS, with a detection rate of 96%. Among the 52 children, 36 (69%) had gene deletion, 7 (13%) had duplication, and 7 (13%) had micromutation. Among the 43 children with deletion/duplication, 32 had DMD and 11 had BMD; 37 children (86%) met the reading frame rule, among whom 27 (96%) had DMD and 10 (67%) had BMD. All 7 children with micromutation had DMD.CONCLUSIONS:
The reading frame rule has an extremely high predictive value for DMD but a limited predictive value for BMD.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Distrofia Muscular de Duchenne
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Child
/
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Zhongguo Dang Dai Er Ke Za Zhi
Año:
2020
Tipo del documento:
Article
País de afiliación:
China