[A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy].

Autor:	Niu HH; Department of Pediatrics, First Affiliated Hospital of Air Force Medical University, Xi'an 710032, China. quanyi@fmmu.edu.cn., Tao DY, Cheng SQ
Jazyk:	čínština
Zdroj:	Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2020 Jun; Vol. 22 (6), pp. 602-607.
Abstrakt:	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.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu