Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing

Duchenne muscular dystrophy (DMD), one of the most common progressive and severely disabling neuromuscular diseases in children, can be largely attributed to the loss of function of the DMD gene on chromosome Xp21.2-p21.1. This paper describes the case of a 10-year-old boy diagnosed with DMD. Whole...

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Autores principales:	Qianqian Li, Zhanni Chen, Hui Xiong, Ranran Li, Chenguang Yu, Jingjing Meng, Panlai Shi, Xiangdong Kong
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	Duchenne muscular dystrophy partial exonic deletion breakpoints whole exome sequencing long-read whole-genome sequencing Genetics QH426-470
Acceso en línea:	https://doaj.org/article/c0194b912d4b4b289ebfa0000ed3fb60
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spelling	oai:doaj.org-article:c0194b912d4b4b289ebfa0000ed3fb602021-12-01T07:32:00ZNovel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing1664-802110.3389/fgene.2021.762987https://doaj.org/article/c0194b912d4b4b289ebfa0000ed3fb602021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.762987/fullhttps://doaj.org/toc/1664-8021Duchenne muscular dystrophy (DMD), one of the most common progressive and severely disabling neuromuscular diseases in children, can be largely attributed to the loss of function of the DMD gene on chromosome Xp21.2-p21.1. This paper describes the case of a 10-year-old boy diagnosed with DMD. Whole exome sequencing confirmed the hypothesized large partial exonic deletion of c.7310-11543_7359del (chrX:g.31792260_31803852del) spanning exon 51 and intron 50 in DMD. This large deletion was verified to be de novo by PCR, and the two breakpoints were further confirmed by Sanger sequencing and long-read whole-genome sequencing. Notably, this partial exonic deletion was the only complex variation in the deep intron regions or intron–exon junction regions in DMD. In addition, the case study demonstrates the clinical importance of using multiple molecular genetic testing methods for the diagnosis of rare diseases.Qianqian LiZhanni ChenHui XiongRanran LiChenguang YuJingjing MengPanlai ShiXiangdong KongFrontiers Media S.A.articleDuchenne muscular dystrophypartial exonic deletionbreakpointswhole exome sequencinglong-read whole-genome sequencingGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Duchenne muscular dystrophy partial exonic deletion breakpoints whole exome sequencing long-read whole-genome sequencing Genetics QH426-470
spellingShingle	Duchenne muscular dystrophy partial exonic deletion breakpoints whole exome sequencing long-read whole-genome sequencing Genetics QH426-470 Qianqian Li Zhanni Chen Hui Xiong Ranran Li Chenguang Yu Jingjing Meng Panlai Shi Xiangdong Kong Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing
description	Duchenne muscular dystrophy (DMD), one of the most common progressive and severely disabling neuromuscular diseases in children, can be largely attributed to the loss of function of the DMD gene on chromosome Xp21.2-p21.1. This paper describes the case of a 10-year-old boy diagnosed with DMD. Whole exome sequencing confirmed the hypothesized large partial exonic deletion of c.7310-11543_7359del (chrX:g.31792260_31803852del) spanning exon 51 and intron 50 in DMD. This large deletion was verified to be de novo by PCR, and the two breakpoints were further confirmed by Sanger sequencing and long-read whole-genome sequencing. Notably, this partial exonic deletion was the only complex variation in the deep intron regions or intron–exon junction regions in DMD. In addition, the case study demonstrates the clinical importance of using multiple molecular genetic testing methods for the diagnosis of rare diseases.
format	article
author	Qianqian Li Zhanni Chen Hui Xiong Ranran Li Chenguang Yu Jingjing Meng Panlai Shi Xiangdong Kong
author_facet	Qianqian Li Zhanni Chen Hui Xiong Ranran Li Chenguang Yu Jingjing Meng Panlai Shi Xiangdong Kong
author_sort	Qianqian Li
title	Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing
title_short	Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing
title_full	Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing
title_fullStr	Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing
title_full_unstemmed	Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing
title_sort	novel partial exon 51 deletion in the duchenne muscular dystrophy gene identified via whole exome sequencing and long-read whole-genome sequencing
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/c0194b912d4b4b289ebfa0000ed3fb60
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Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing

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