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어퍼트 및 크루즌 증후군을 유발하는 골조직 특이성 FGFR2 돌연변이에 의한 두개안면 형태의 변화

Other Titles
 Craniofacial morphologic alteration induced by bone-targeted mutants of FGFR2 causing Apert and Crouzon syndrome 
 이기준  ;  나현덕  ;  스티븐 소아  ;  박영철  ;  백형선  ;  윤태민  ;  송진욱 
 KOREAN JOURNAL OF ORTHODONTICS, Vol.36(4) : 284-294, 2006 
Journal Title
Issue Date
Craniosynostosis ; Apert syndrome ; Crouzon syndrome ; FGFR2
Objective: Activating mutations in the fibroblast growth factor receptor-2 (FGFR2) have been shown to cause syndromic craniosynostosis such as Apert and Crouzon syndromes. The purpose of this pilot study was to investigate the resultant phenotypes induced by the two distinctive bone-targeted gene constructs of FGFR2, Pro253Arg and Cys278Phe, corresponding to human Apert and Crouzon syndromes respectively.
Methods: Wild type and a transgenic mouse model with normal FGFR2 were used as controls to examine the validity of the microinjection. Micro-CT and morphometric analysis on the skull revealed the following results.
Results: Both Apert and Crouzon mutants of FGFR2 induced fusion of calvarial sutures and anteroposteriorly constricted facial dimension, with anterior crossbite present only in Apert mice. Apert mice differed from Crouzon mice and transgenic mice with normal FGFR2 in the anterior cranial base flexure and calvarial flexure angle which implies a possible difference in the pathogenesis of the two mutations. In contrast, the transgenic mice with normal FGFR2 displayed normal craniofacial phenotype.
Conclusion: Apert and Crouzon mutations appear to lead to genotype-specific phenotypes, possibly causing the distinctive sites and sequence of synostosis in the calvaria and cranial base. The exact function of the altered FGFR2 at each suture needs further investigation.
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2. College of Dentistry (치과대학) > Dept. of Orthodontics (교정과학교실) > 1. Journal Papers
Yonsei Authors
Park, Young Chel(박영철)
Baik, Hyoung Seon(백형선)
Lee, Kee Joon(이기준) ORCID logo https://orcid.org/0000-0002-0782-3128
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