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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-...

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Detalles Bibliográficos
Autores principales: Li, Pengyu, Wang, Anran, Li, Jiangxia, Li, Xi, Sun, Wenjie, Liu, Qiji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
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.
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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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