Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome

Abstract 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 co...

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Autores principales:	Bong-Soo Kim, Hye-Rim Shin, Hyun-Jung Kim, Heein Yoon, Young-Dan Cho, Kang-Young Choi, Je-Yong Choi, Woo-Jin Kim, Hyun-Mo Ryoo
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/e581febabd234dd09e9937a0b26d6e38
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spelling	oai:doaj.org-article:e581febabd234dd09e9937a0b26d6e382021-12-02T18:03:46ZSeptal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome10.1038/s41598-021-87260-52045-2322https://doaj.org/article/e581febabd234dd09e9937a0b26d6e382021-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-87260-5https://doaj.org/toc/2045-2322Abstract 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.Bong-Soo KimHye-Rim ShinHyun-Jung KimHeein YoonYoung-Dan ChoKang-Young ChoiJe-Yong ChoiWoo-Jin KimHyun-Mo RyooNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Bong-Soo Kim Hye-Rim Shin Hyun-Jung Kim Heein Yoon Young-Dan Cho Kang-Young Choi Je-Yong Choi Woo-Jin Kim Hyun-Mo Ryoo Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome
description	Abstract 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	article
author	Bong-Soo Kim Hye-Rim Shin Hyun-Jung Kim Heein Yoon Young-Dan Cho Kang-Young Choi Je-Yong Choi Woo-Jin Kim Hyun-Mo Ryoo
author_facet	Bong-Soo Kim Hye-Rim Shin Hyun-Jung Kim Heein Yoon Young-Dan Cho Kang-Young Choi Je-Yong Choi Woo-Jin Kim Hyun-Mo Ryoo
author_sort	Bong-Soo Kim
title	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_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_sort	septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of apert syndrome
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/e581febabd234dd09e9937a0b26d6e38
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Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome

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