Mutation spectrum and health status in skeletal muscle channelopathies in Japan

Sasaki, Ryogen; Nakaza, Maki; Furuta, Mitsuru; Fujino, Haruo; Kubota, Tomoya; Takahashi, Masanori P.

doi:https://doi.org/10.1016/j.nmd.2020.06.001

Mutation spectrum and health status in skeletal muscle channelopathies in Japan

Sasaki, Ryogen; Nakaza, Maki; Furuta, Mitsuru et al.

Neuromuscular Disorders, 2020, 30(7), 546-553

アクセス数:925件（2025-07-17 21:16 集計）

固定URL: https://hdl.handle.net/11094/85460

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タイトル	Mutation spectrum and health status in skeletal muscle channelopathies in Japan
著者	NRID 1000060303723 1000060303723 著者名 Sasaki, Ryogen
	著者名 Nakaza, Maki
	著者名 Furuta, Mitsuru
	NRID 1000020707343 1000020707343 ORCID 0000-0002-8889-1199 0000-0002-8889-1199 researchmap permalink haruofujino haruofujino Scopus Author ID 56065490900 56065490900 著者名 Fujino, Haruo
	NRID 1000020573231 1000020573231 ORCID 0000-0003-1004-8537 0000-0003-1004-8537 researchmap permalink n-phys n-phys Scopus Author ID 26633163700 26633163700 著者名 Kubota, Tomoya
	NRID 1000020359847 1000020359847 researchmap permalink mtakahas mtakahas Scopus Author ID 15038719500 15038719500 著者名 Takahashi, Masanori P.
キーワード等	Skeletal muscle channelopathies
	Non-dystrophic myotonia
	Periodic paralysis
	CLCN1
	SCN4A
	CACNA1S
抄録	Skeletal muscle channelopathies, including non-dystrophic myotonia and periodic paralysis, are rare hereditary disorders caused by mutations of various ion channel genes. To define the frequency of associated mutations of skeletal muscle channelopathies in Japan, clinical and genetic data of two academic institutions, which provides genetic analysis service, were reviewed. Of 105 unrelated pedigrees genetically confirmed, 66 pedigrees were non-dystrophic myotonias [CLCN1 (n = 30) and SCN4A (n = 36)], 11 were hyperkalemic periodic paralysis (SCN4A), and 28 were hypokalemic periodic paralysis [CACNA1S (n = 16) and SCN4A (n = 12)]. Of the 30 families with myotonia congenita, dominant form (Thomsen type) consisted 67%, and unique mutations, A298T, P480T, T539A, and M560T, not found in Western countries, were commonly identified in CLCN1. Hypokalemic periodic paralysis caused by SCN4A mutations consisted 43% in Japan, which was much higher than previous reports. Furthermore, the quality of life of the patients was assessed using the patient-reported outcome measures, SF-36 and INQoL, for 41 patients. This study indicated that the etiology of skeletal muscle channelopathies in Japan was not identical to previous reports from Western countries, and provided crucial information for genetics as well as future therapeutic interventions.
出版者	Elsevier Ltd
収録物名	Neuromuscular Disorders
巻(号)	30(7)
ページ	546-553
刊行年月	2020-07-01
言語	英語
ハンドルURL	https://hdl.handle.net/11094/85460
PISSN	09608966
eISSN	18732364
NCID	AA10836389
関連情報 (isVersionOf)	DOI (出版社版) https://doi.org/10.1016/j.nmd.2020.06.001
関連情報 (isIdenticalTo)	PMID 32660787
アクセス権	open access
権利情報	© 2020 Elsevier B.V. This manuscript version is made available under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
出版タイプ	Accepted Manuscript
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCMI資源タイプ	text
DCTERMS.bibliographicCitation	Neuromuscular Disorders. 2020, 30(7), p. 546-553
DC.title	Mutation spectrum and health status in skeletal muscle channelopathies in Japan
DC.creator	Sasaki, Ryogen
	Nakaza, Maki
	Furuta, Mitsuru
	Fujino, Haruo
	Kubota, Tomoya
	Takahashi, Masanori P.
DC.publisher	Elsevier Ltd
DC.language' scheme='DCTERMS.RFC1766	英語
DC.type' scheme='DCTERMS.DCMIType	text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2020-07-01
DC.identifier	https://doi.org/10.1016/j.nmd.2020.06.001
DC.subject	Skeletal muscle channelopathies
	Non-dystrophic myotonia
	Periodic paralysis
	CLCN1
	SCN4A
	CACNA1S
DCTERMS.abstract	Skeletal muscle channelopathies, including non-dystrophic myotonia and periodic paralysis, are rare hereditary disorders caused by mutations of various ion channel genes. To define the frequency of associated mutations of skeletal muscle channelopathies in Japan, clinical and genetic data of two academic institutions, which provides genetic analysis service, were reviewed. Of 105 unrelated pedigrees genetically confirmed, 66 pedigrees were non-dystrophic myotonias [CLCN1 (n = 30) and SCN4A (n = 36)], 11 were hyperkalemic periodic paralysis (SCN4A), and 28 were hypokalemic periodic paralysis [CACNA1S (n = 16) and SCN4A (n = 12)]. Of the 30 families with myotonia congenita, dominant form (Thomsen type) consisted 67%, and unique mutations, A298T, P480T, T539A, and M560T, not found in Western countries, were commonly identified in CLCN1. Hypokalemic periodic paralysis caused by SCN4A mutations consisted 43% in Japan, which was much higher than previous reports. Furthermore, the quality of life of the patients was assessed using the patient-reported outcome measures, SF-36 and INQoL, for 41 patients. This study indicated that the etiology of skeletal muscle channelopathies in Japan was not identical to previous reports from Western countries, and provided crucial information for genetics as well as future therapeutic interventions.
DC.rights	© 2020 Elsevier B.V. This manuscript version is made available under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
DC.format	85460
citation_title	Mutation spectrum and health status in skeletal muscle channelopathies in Japan
citation_author	Sasaki, Ryogen
	Nakaza, Maki
	Furuta, Mitsuru
	Fujino, Haruo
	Kubota, Tomoya
	Takahashi, Masanori P.
citation_publisher	Elsevier Ltd
citation_language	英語
citation_date	2020-07-01
citation_journal_title	Neuromuscular Disorders
citation_volume	30
citation_issue	7
citation_firstpage	546
citation_lastpage	553
citation_doi	https://doi.org/10.1016/j.nmd.2020.06.001
citation_pmid	32660787
citation_public_url	https://hdl.handle.net/11094/85460

Mutation spectrum and health status in skeletal muscle channelopathies in Japan

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