A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 602-607, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-828699
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Retrospective Studies
/
Dystrophin
/
Gene Deletion
/
Muscular Dystrophy, Duchenne
/
Multiplex Polymerase Chain Reaction
/
Genotype
/
Mutation
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Limits:
Child
/
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2020
Type:
Article
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