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&g...

Descripción completa

Detalles Bibliográficos
Autores principales: Zeng, Jingxia, Hao, Jing, Zhou, Wei, Zhou, Zhaoqun, Miao, Hongjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8654191/
https://www.ncbi.nlm.nih.gov/pubmed/34900872
http://dx.doi.org/10.3389/fped.2021.773112
_version_ 1784611813721112576
author Zeng, Jingxia
Hao, Jing
Zhou, Wei
Zhou, Zhaoqun
Miao, Hongjun
author_facet Zeng, Jingxia
Hao, Jing
Zhou, Wei
Zhou, Zhaoqun
Miao, Hongjun
author_sort Zeng, Jingxia
collection PubMed
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 Online
Article
Text
id pubmed-8654191
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-86541912021-12-09 A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review Zeng, Jingxia Hao, Jing Zhou, Wei Zhou, Zhaoqun Miao, Hongjun Front Pediatr Pediatrics 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. Frontiers Media S.A. 2021-11-24 /pmc/articles/PMC8654191/ /pubmed/34900872 http://dx.doi.org/10.3389/fped.2021.773112 Text en Copyright © 2021 Zeng, Hao, Zhou, Zhou and Miao. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Zeng, Jingxia
Hao, Jing
Zhou, Wei
Zhou, Zhaoqun
Miao, Hongjun
A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review
title 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_short 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
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8654191/
https://www.ncbi.nlm.nih.gov/pubmed/34900872
http://dx.doi.org/10.3389/fped.2021.773112
work_keys_str_mv AT zengjingxia anovelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview
AT haojing anovelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview
AT zhouwei anovelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview
AT zhouzhaoqun anovelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview
AT miaohongjun anovelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview
AT zengjingxia novelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview
AT haojing novelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview
AT zhouwei novelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview
AT zhouzhaoqun novelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview
AT miaohongjun novelmutationc841ctincopasyndromeofan11yearoldboyacasereportandshortliteraturereview

Ejemplares similares