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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-11-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2021.773112/full |
| _version_ | 1830452195083943936 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-21T08:46:05Z |
| format | Article |
| id | doaj.art-27a8eefbf7b3444ea39fe7e9d19acd2a |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-21T08:46:05Z |
| publishDate | 2021-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-27a8eefbf7b3444ea39fe7e9d19acd2a2022-12-21T19:09:49ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602021-11-01910.3389/fped.2021.773112773112A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature ReviewJingxia Zeng0Jing Hao1Wei Zhou2Zhaoqun Zhou3Hongjun Miao4Department of Emergency Medicine, Children's Hospital of Nanjing Medical University, Nanjing, ChinaDepartment of Emergency Medicine, Children's Hospital of Nanjing Medical University, Nanjing, ChinaNanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, ChinaDepartment of Emergency Medicine, Children's Hospital of Nanjing Medical University, Nanjing, ChinaDepartment of Emergency Medicine, Children's Hospital of Nanjing Medical University, Nanjing, ChinaCOPA 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.https://www.frontiersin.org/articles/10.3389/fped.2021.773112/fullCOPA syndromegene mutationlung diseaseauto-immunitychildren |
| spellingShingle | 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 Frontiers in Pediatrics COPA syndrome gene mutation lung disease auto-immunity children |
| 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 | COPA syndrome gene mutation lung disease auto-immunity children |
| url | https://www.frontiersin.org/articles/10.3389/fped.2021.773112/full |
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