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COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family
Mutations in the gene coding collagen type II α1 chain (COL2A1) are associated with a series of human disorders mainly involving the skeletal system. Here, we describe the second family with COL2A1 mutation, c.611G>C, Gly204Ala, leading to a replacement of glycine in the core triple helical (Gly-...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217077/ https://www.ncbi.nlm.nih.gov/pubmed/34168485 http://dx.doi.org/10.2147/IJGM.S310050 |
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author | Li, Pengyu Wang, Anran Li, Jiangxia Li, Xi Sun, Wenjie Liu, Qiji |
author_facet | Li, Pengyu Wang, Anran Li, Jiangxia Li, Xi Sun, Wenjie Liu, Qiji |
author_sort | Li, Pengyu |
collection | PubMed |
description | Mutations in the gene coding collagen type II α1 chain (COL2A1) are associated with a series of human disorders mainly involving the skeletal system. Here, we describe the second family with COL2A1 mutation, c.611G>C, Gly204Ala, leading to a replacement of glycine in the core triple helical (Gly-X-Y) domain of COL2A1 gene. The replacements of glycine in every third position of the triple with other amino acids will cause failure in the structure of type II collagen. The affected family members manifested early-onset osteoarthritis involving multiple joints. We propose that the COL2A1 gene should be taken into consideration for genetic counseling for patients with hereditary premature osteoarthritis and individuals carrying this mutation should receive early interventions for osteoarthritis. |
format | Online Article Text |
id | pubmed-8217077 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-82170772021-06-23 COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family Li, Pengyu Wang, Anran Li, Jiangxia Li, Xi Sun, Wenjie Liu, Qiji Int J Gen Med Case Series Mutations in the gene coding collagen type II α1 chain (COL2A1) are associated with a series of human disorders mainly involving the skeletal system. Here, we describe the second family with COL2A1 mutation, c.611G>C, Gly204Ala, leading to a replacement of glycine in the core triple helical (Gly-X-Y) domain of COL2A1 gene. The replacements of glycine in every third position of the triple with other amino acids will cause failure in the structure of type II collagen. The affected family members manifested early-onset osteoarthritis involving multiple joints. We propose that the COL2A1 gene should be taken into consideration for genetic counseling for patients with hereditary premature osteoarthritis and individuals carrying this mutation should receive early interventions for osteoarthritis. Dove 2021-06-16 /pmc/articles/PMC8217077/ /pubmed/34168485 http://dx.doi.org/10.2147/IJGM.S310050 Text en © 2021 Li et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Case Series Li, Pengyu Wang, Anran Li, Jiangxia Li, Xi Sun, Wenjie Liu, Qiji COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family |
title | COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family |
title_full | COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family |
title_fullStr | COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family |
title_full_unstemmed | COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family |
title_short | COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family |
title_sort | col2a1 mutation (c.611g>c) leads to early-onset osteoarthritis in a chinese family |
topic | Case Series |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217077/ https://www.ncbi.nlm.nih.gov/pubmed/34168485 http://dx.doi.org/10.2147/IJGM.S310050 |
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