FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.
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.
Kanauchi
Yumiko
Y
Department of Orthopaedic Surgery, Yamagata University School of Medicine, Iida-Nishi, Yamagata, Japan. yumikanauchi@aol.com
Muragaki
Yasuteru
Y
Ogino
Toshihiko
T
Takahara
Masatoshi
M
Tsuchida
Hiroyuki
H
Ishigaki
Daisuke
D
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D009154:Mutation; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013580:Synostosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2