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A Novel FGFR2 mutation in Tyrosine Kinase II domain, L617F, in Crouzon syndrome

Cited 6 time in Web of Science Cited 8 time in Scopus
Authors
Suh, Ye-Jin; Bae, Han-Sol; Choi, Jin-Young; Lee, Jong‐Ho; Kim, Myung‐Jin; Kim, Sukwha; Ryoo, Hyun‐Mo; Baek, Seung‐Hak
Issue Date
2014-01
Publisher
Wiley
Citation
Journal of Cellular Biochemistry, Vol.115 No.1, pp. 102-110
Keywords
복합학Novel FGFR2 MutationL617FTyrosine Kinase DomainCrouzon Syndrome
Abstract
The purposes of this study were to find a novel mutation of FGFR2 in Korean Crouzon syndrome patients and to identify the functional consequences of this mutation. The samples consisted of 16 Crouzon patients. Peripheral venous blood was collected from the patients. FGFR2 mutation screening was performed by direct PCR sequencing of all exons and part of the introns. Restriction fragment length polymorphism (RFLP) analysis was performed to confirm the novel mutation. For functional studies, we performed luciferase assay for Runx2 transcriptional activity, real‐time PCR for the bone markers (osteocalcin and alkaline phosphatase), and Western blot for phosphorylated FGFR2 and ERK1/2‐MAPK protein. Among 16 patients, 10 showed FGFR2 mutations that had already been reported elsewhere. A novel FGFR2 mutation associated with tyrosine kinase II (TK‐II) domain, L617F, was found in one Crouzon syndrome patient by direct PCR sequencing. Presence of this mutation was confirmed using RFLP analysis. Runx2 transcriptional activity and expression of osteocalcin and alkaline phosphatase significantly increased in L617F‐transfected cells compared to wild‐type cells. FGFR2 autophosphorylation in L617F‐transfected cells increased in 1% serum, but ERK1/2‐MAPK protein was not activated. The FGFR2‐L617F mutation associated with the TK domain is potentially related to premature suture closure in Crouzon syndrome patient.
ISSN
0730-2312
Language
English
URI
https://hdl.handle.net/10371/92583
DOI
https://doi.org/10.1002/jcb.24637
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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