A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review

COPA syndrome is a rare autosomal dominant disorder with auto-immune and auto-inflammatory abnormalities. This disease is caused by mutations of COPα, a protein that functions in the retrograde transport from the Golgi to the ER. Here we report the first COPA case of an 11-year-old boy with c.841C&a...

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Autores principales:	Jingxia Zeng, Jing Hao, Wei Zhou, Zhaoqun Zhou, Hongjun Miao
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	COPA syndrome gene mutation lung disease auto-immunity children Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/27a8eefbf7b3444ea39fe7e9d19acd2a
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id	oai:doaj.org-article:27a8eefbf7b3444ea39fe7e9d19acd2a
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spelling	oai:doaj.org-article:27a8eefbf7b3444ea39fe7e9d19acd2a2021-11-30T18:30:08ZA Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review2296-236010.3389/fped.2021.773112https://doaj.org/article/27a8eefbf7b3444ea39fe7e9d19acd2a2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.773112/fullhttps://doaj.org/toc/2296-2360COPA syndrome is a rare autosomal dominant disorder with auto-immune and auto-inflammatory abnormalities. This disease is caused by mutations of COPα, a protein that functions in the retrograde transport from the Golgi to the ER. Here we report the first COPA case of an 11-year-old boy with c.841C>T, p.R281W mutation. The arginine at position 281 was located in a highly evolutionary-conserved region. Immunosuppressive drugs and corticosteroids might not improve the long-term outcome of COPA patients. For patients with pulmonary disease, polyarthritis and/or kidney disorder, and suspected of COPA, genetic analysis should be conducted promptly for early diagnosis.Jingxia ZengJing HaoWei ZhouZhaoqun ZhouHongjun MiaoFrontiers Media S.A.articleCOPA syndromegene mutationlung diseaseauto-immunitychildrenPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	COPA syndrome gene mutation lung disease auto-immunity children Pediatrics RJ1-570
spellingShingle	COPA syndrome gene mutation lung disease auto-immunity children Pediatrics RJ1-570 Jingxia Zeng Jing Hao Wei Zhou Zhaoqun Zhou Hongjun Miao A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review
description	COPA syndrome is a rare autosomal dominant disorder with auto-immune and auto-inflammatory abnormalities. This disease is caused by mutations of COPα, a protein that functions in the retrograde transport from the Golgi to the ER. Here we report the first COPA case of an 11-year-old boy with c.841C>T, p.R281W mutation. The arginine at position 281 was located in a highly evolutionary-conserved region. Immunosuppressive drugs and corticosteroids might not improve the long-term outcome of COPA patients. For patients with pulmonary disease, polyarthritis and/or kidney disorder, and suspected of COPA, genetic analysis should be conducted promptly for early diagnosis.
format	article
author	Jingxia Zeng Jing Hao Wei Zhou Zhaoqun Zhou Hongjun Miao
author_facet	Jingxia Zeng Jing Hao Wei Zhou Zhaoqun Zhou Hongjun Miao
author_sort	Jingxia Zeng
title	A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review
title_short	A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review
title_full	A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review
title_fullStr	A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review
title_full_unstemmed	A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review
title_sort	novel mutation c.841c>t in copa syndrome of an 11-year-old boy: a case report and short literature review
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/27a8eefbf7b3444ea39fe7e9d19acd2a
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A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review

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