Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Dystrophinopathy is a group of inherited phenotypes arising from pathogenic variants in DMD. We evaluated the clinical and genetic characteristics of Korean patients with genetically confirmed dystrophinopathy. We retrospectively reviewed medical records (January 2004-September 2020) from the myopat...

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Autores principales:	UnKyu Yun, Seung-Ah Lee, Won Ah Choi, Seong-Woong Kang, Go Hun Seo, Jung Hwan Lee, Goeun Park, Sujee Lee, Young-Chul Choi, Hyung Jun Park
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/299248817ceb4427a87a729a47009b78
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spelling	oai:doaj.org-article:299248817ceb4427a87a729a47009b782021-12-02T20:06:31ZClinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.1932-620310.1371/journal.pone.0255011https://doaj.org/article/299248817ceb4427a87a729a47009b782021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0255011https://doaj.org/toc/1932-6203Dystrophinopathy is a group of inherited phenotypes arising from pathogenic variants in DMD. We evaluated the clinical and genetic characteristics of Korean patients with genetically confirmed dystrophinopathy. We retrospectively reviewed medical records (January 2004-September 2020) from the myopathy database maintained at the study hospital and found 227 patients from 218 unrelated families with dystrophinopathy. Clinical phenotypes included 120 (53%) Duchenne muscular dystrophy (DMD) cases, 20 (9%) intermediate phenotype muscular dystrophy (IMD) cases, 65 (29%) Becker muscular dystrophy (BMD) cases, 18 (8%) undetermined phenotypes, and 4 (2%) symptomatic carriers. The median ages at symptom onset and diagnosis were 5.0 years (interquartile range [IQR]: 3.8-8.0) and 12.0 years (IQR: 7.0-21.0), respectively. Total manual muscle test (MMT) scores decreased annually in patients with DMD, IMD, and BMD. Overall, when age increased by 1 year, total MMT scores decreased on average by -1.978, -1.681, and -1.303 in patients with DMD (p<0.001), IMD (p<0.001), and BMD (p<0.001), respectively. Exonic deletion and duplication were reported in 147 (67%) and 31 (14%) of the 218 unrelated probands, respectively. A total of 37 different small sequence variants were found in 40 (18%) of the 218 probands. The reading frame rule was applicable to 142 (94%) of the 151 probands. The present results highlight the long-term natural history and genetic spectrum of dystrophinopathy in a large-scale Korean cohort.UnKyu YunSeung-Ah LeeWon Ah ChoiSeong-Woong KangGo Hun SeoJung Hwan LeeGoeun ParkSujee LeeYoung-Chul ChoiHyung Jun ParkPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 7, p e0255011 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q UnKyu Yun Seung-Ah Lee Won Ah Choi Seong-Woong Kang Go Hun Seo Jung Hwan Lee Goeun Park Sujee Lee Young-Chul Choi Hyung Jun Park Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
description	Dystrophinopathy is a group of inherited phenotypes arising from pathogenic variants in DMD. We evaluated the clinical and genetic characteristics of Korean patients with genetically confirmed dystrophinopathy. We retrospectively reviewed medical records (January 2004-September 2020) from the myopathy database maintained at the study hospital and found 227 patients from 218 unrelated families with dystrophinopathy. Clinical phenotypes included 120 (53%) Duchenne muscular dystrophy (DMD) cases, 20 (9%) intermediate phenotype muscular dystrophy (IMD) cases, 65 (29%) Becker muscular dystrophy (BMD) cases, 18 (8%) undetermined phenotypes, and 4 (2%) symptomatic carriers. The median ages at symptom onset and diagnosis were 5.0 years (interquartile range [IQR]: 3.8-8.0) and 12.0 years (IQR: 7.0-21.0), respectively. Total manual muscle test (MMT) scores decreased annually in patients with DMD, IMD, and BMD. Overall, when age increased by 1 year, total MMT scores decreased on average by -1.978, -1.681, and -1.303 in patients with DMD (p<0.001), IMD (p<0.001), and BMD (p<0.001), respectively. Exonic deletion and duplication were reported in 147 (67%) and 31 (14%) of the 218 unrelated probands, respectively. A total of 37 different small sequence variants were found in 40 (18%) of the 218 probands. The reading frame rule was applicable to 142 (94%) of the 151 probands. The present results highlight the long-term natural history and genetic spectrum of dystrophinopathy in a large-scale Korean cohort.
format	article
author	UnKyu Yun Seung-Ah Lee Won Ah Choi Seong-Woong Kang Go Hun Seo Jung Hwan Lee Goeun Park Sujee Lee Young-Chul Choi Hyung Jun Park
author_facet	UnKyu Yun Seung-Ah Lee Won Ah Choi Seong-Woong Kang Go Hun Seo Jung Hwan Lee Goeun Park Sujee Lee Young-Chul Choi Hyung Jun Park
author_sort	UnKyu Yun
title	Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
title_short	Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
title_full	Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
title_fullStr	Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
title_full_unstemmed	Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
title_sort	clinical and genetic spectra in patients with dystrophinopathy in korea: a single-center study.
publisher	Public Library of Science (PLoS)
publishDate	2021
url	https://doaj.org/article/299248817ceb4427a87a729a47009b78
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_version_	1718375351013343232

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

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