Premium
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis
Author(s) -
Kanauchi Yumiko,
Muragaki Yasuteru,
Ogino Toshihiko,
Takahara Masatoshi,
Tsuchida Hiroyuki,
Ishigaki Daisuke
Publication year - 2003
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2003.tb01017.x
Subject(s) - apert syndrome , synostosis , fibroblast growth factor receptor 2 , dysostosis , medicine , mutation , genetics , point mutation , craniosynostosis , fibroblast growth factor , gene , biology , surgery , congenital disease , receptor
Most cases of Apert syndrome are due to S252W or P253R mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. To study a correlation between the FGFR2 mutations and the clinical complications, we examined the FGFR2 gene in a patient with Apert syndrome associated with humeroradial synostosis, and found that the mutation was S252W. This report suggested that S252W mutation in FGFR2 may cause humeroradial synostosis in Apert syndrome.