Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies

Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical phenotype is considered as highly consistent and little attention has been given to the extramuscular abnormalities.Methods: We re...

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Autores principales:	Shu Zhang, Lin Lei, Zhirong Fan, Shengyao Su, Jianying Duo, Qinrong Luan, Yan Lu, Li Di, Min Wang, Yuwei Da
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	SELENON Selenoprotein N delayed respiratory insufficiency extramuscular abnormalities mutation Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/7ffbe90dfe314c30aadf0cb8eb540134
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spelling	oai:doaj.org-article:7ffbe90dfe314c30aadf0cb8eb5401342021-11-19T05:20:17ZDelayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies1664-229510.3389/fneur.2021.766942https://doaj.org/article/7ffbe90dfe314c30aadf0cb8eb5401342021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fneur.2021.766942/fullhttps://doaj.org/toc/1664-2295Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical phenotype is considered as highly consistent and little attention has been given to the extramuscular abnormalities.Methods: We reported clinical, histopathological, and genetic features of four Chinese patients with SEPN1-RM and performed literature review on delayed respiratory insufficiency and extramuscular involvement.Results: A total of four patients exhibited both the typical and atypical clinical features of SEPN1-RM. The classical manifestations included axial and limb girdle weakness, spinal rigidity, scoliosis, respiratory insufficiency, and multiminicore morphological lesions. However, high interindividual variability was noticed on disease severity, especially the onset of respiratory involvement. Two adult patients postponed respiratory insufficiency to the third decade of life, while two juvenile patients manifested early hypoventilation with puberty exacerbation. As atypical features, extramuscular involvement of weight gain, subcutaneous adipose tissue accumulation, intellectual disability, and mild cardiac changes were observed. Molecular findings revealed three novel mutations of SELENON such as c.1286_1288 del CCT, c.1078_1086dupGGCTACATA, and c.785 G>C. Ten cases with delayed respiratory insufficiency were identified from previous publications. A total of 18 studies described extramuscular abnormalities including joint contractures, alterations of body mass index (BMI), mild cardiac changes, and insulin resistance. Intellectual impairment was extremely rare.Conclusion: SEPN1-RM should be considered as a differential diagnosis in adult patients with delayed respiratory involvement. Extramuscular involvement such as body composition alterations deserves more clinical attention. The novel mutations of SELENON widened the genetic spectrum of patients with SEPN1-RM.Shu ZhangLin LeiZhirong FanShengyao SuJianying DuoQinrong LuanYan LuLi DiMin WangYuwei DaFrontiers Media S.A.articleSELENONSelenoprotein Ndelayed respiratory insufficiencyextramuscular abnormalitiesmutationNeurology. Diseases of the nervous systemRC346-429ENFrontiers in Neurology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	SELENON Selenoprotein N delayed respiratory insufficiency extramuscular abnormalities mutation Neurology. Diseases of the nervous system RC346-429
spellingShingle	SELENON Selenoprotein N delayed respiratory insufficiency extramuscular abnormalities mutation Neurology. Diseases of the nervous system RC346-429 Shu Zhang Lin Lei Zhirong Fan Shengyao Su Jianying Duo Qinrong Luan Yan Lu Li Di Min Wang Yuwei Da Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies
description	Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical phenotype is considered as highly consistent and little attention has been given to the extramuscular abnormalities.Methods: We reported clinical, histopathological, and genetic features of four Chinese patients with SEPN1-RM and performed literature review on delayed respiratory insufficiency and extramuscular involvement.Results: A total of four patients exhibited both the typical and atypical clinical features of SEPN1-RM. The classical manifestations included axial and limb girdle weakness, spinal rigidity, scoliosis, respiratory insufficiency, and multiminicore morphological lesions. However, high interindividual variability was noticed on disease severity, especially the onset of respiratory involvement. Two adult patients postponed respiratory insufficiency to the third decade of life, while two juvenile patients manifested early hypoventilation with puberty exacerbation. As atypical features, extramuscular involvement of weight gain, subcutaneous adipose tissue accumulation, intellectual disability, and mild cardiac changes were observed. Molecular findings revealed three novel mutations of SELENON such as c.1286_1288 del CCT, c.1078_1086dupGGCTACATA, and c.785 G>C. Ten cases with delayed respiratory insufficiency were identified from previous publications. A total of 18 studies described extramuscular abnormalities including joint contractures, alterations of body mass index (BMI), mild cardiac changes, and insulin resistance. Intellectual impairment was extremely rare.Conclusion: SEPN1-RM should be considered as a differential diagnosis in adult patients with delayed respiratory involvement. Extramuscular involvement such as body composition alterations deserves more clinical attention. The novel mutations of SELENON widened the genetic spectrum of patients with SEPN1-RM.
format	article
author	Shu Zhang Lin Lei Zhirong Fan Shengyao Su Jianying Duo Qinrong Luan Yan Lu Li Di Min Wang Yuwei Da
author_facet	Shu Zhang Lin Lei Zhirong Fan Shengyao Su Jianying Duo Qinrong Luan Yan Lu Li Di Min Wang Yuwei Da
author_sort	Shu Zhang
title	Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies
title_short	Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies
title_full	Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies
title_fullStr	Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies
title_full_unstemmed	Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies
title_sort	delayed respiratory insufficiency and extramuscular abnormalities in selenoprotein n-related myopathies
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/7ffbe90dfe314c30aadf0cb8eb540134
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Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies

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