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Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome
Midface hypoplasia is a major manifestation of Apert syndrome. However, the tissue component responsible for midface hypoplasia has not been elucidated. We studied mice with a chondrocyte-specific Fgfr2(S252W) mutation (Col2a1-cre; Fgfr2(S252W/+)) to investigate the effect of cartilaginous component...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041873/ https://www.ncbi.nlm.nih.gov/pubmed/33846505 http://dx.doi.org/10.1038/s41598-021-87260-5 |
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author | Kim, Bong-Soo Shin, Hye-Rim Kim, Hyun-Jung Yoon, Heein Cho, Young-Dan Choi, Kang-Young Choi, Je-Yong Kim, Woo-Jin Ryoo, Hyun-Mo |
author_facet | Kim, Bong-Soo Shin, Hye-Rim Kim, Hyun-Jung Yoon, Heein Cho, Young-Dan Choi, Kang-Young Choi, Je-Yong Kim, Woo-Jin Ryoo, Hyun-Mo |
author_sort | Kim, Bong-Soo |
collection | PubMed |
description | Midface hypoplasia is a major manifestation of Apert syndrome. However, the tissue component responsible for midface hypoplasia has not been elucidated. We studied mice with a chondrocyte-specific Fgfr2(S252W) mutation (Col2a1-cre; Fgfr2(S252W/+)) to investigate the effect of cartilaginous components in midface hypoplasia of Apert syndrome. In Col2a1-cre; Fgfr2(S252W/+) mice, skull shape was normal at birth, but hypoplastic phenotypes became evident with age. General dimensional changes of mutant mice were comparable with those of mice with mutations in EIIa-cre; Fgfr2(S252W/+), a classic model of Apert syndrome in mice. Col2a1-cre; Fgfr2(S252W/+) mice showed some unique facial phenotypes, such as elevated nasion, abnormal fusion of the suture between the premaxilla and the vomer, and decreased perpendicular plate of the ethmoid bone volume, which are related to the development of the nasal septal cartilage. Morphological and histological examination revealed that the presence of increased septal chondrocyte hypertrophy and abnormal thickening of nasal septum is causally related to midface deformities in nasal septum-associated structures. Our results suggest that careful examination and surgical correction of the nasal septal cartilage may improve the prognosis in the surgical treatment of midface hypoplasia and respiratory problems in patients with Apert syndrome. |
format | Online Article Text |
id | pubmed-8041873 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-80418732021-04-13 Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome Kim, Bong-Soo Shin, Hye-Rim Kim, Hyun-Jung Yoon, Heein Cho, Young-Dan Choi, Kang-Young Choi, Je-Yong Kim, Woo-Jin Ryoo, Hyun-Mo Sci Rep Article Midface hypoplasia is a major manifestation of Apert syndrome. However, the tissue component responsible for midface hypoplasia has not been elucidated. We studied mice with a chondrocyte-specific Fgfr2(S252W) mutation (Col2a1-cre; Fgfr2(S252W/+)) to investigate the effect of cartilaginous components in midface hypoplasia of Apert syndrome. In Col2a1-cre; Fgfr2(S252W/+) mice, skull shape was normal at birth, but hypoplastic phenotypes became evident with age. General dimensional changes of mutant mice were comparable with those of mice with mutations in EIIa-cre; Fgfr2(S252W/+), a classic model of Apert syndrome in mice. Col2a1-cre; Fgfr2(S252W/+) mice showed some unique facial phenotypes, such as elevated nasion, abnormal fusion of the suture between the premaxilla and the vomer, and decreased perpendicular plate of the ethmoid bone volume, which are related to the development of the nasal septal cartilage. Morphological and histological examination revealed that the presence of increased septal chondrocyte hypertrophy and abnormal thickening of nasal septum is causally related to midface deformities in nasal septum-associated structures. Our results suggest that careful examination and surgical correction of the nasal septal cartilage may improve the prognosis in the surgical treatment of midface hypoplasia and respiratory problems in patients with Apert syndrome. Nature Publishing Group UK 2021-04-12 /pmc/articles/PMC8041873/ /pubmed/33846505 http://dx.doi.org/10.1038/s41598-021-87260-5 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Kim, Bong-Soo Shin, Hye-Rim Kim, Hyun-Jung Yoon, Heein Cho, Young-Dan Choi, Kang-Young Choi, Je-Yong Kim, Woo-Jin Ryoo, Hyun-Mo Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome |
title | Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome |
title_full | Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome |
title_fullStr | Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome |
title_full_unstemmed | Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome |
title_short | Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome |
title_sort | septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of apert syndrome |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041873/ https://www.ncbi.nlm.nih.gov/pubmed/33846505 http://dx.doi.org/10.1038/s41598-021-87260-5 |
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