一名患有与肱桡关节融合相关的阿佩尔综合征患者的FGFR2基因突变。

FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.

作者信息

Kanauchi Yumiko, Muragaki Yasuteru, Ogino Toshihiko, Takahara Masatoshi, Tsuchida Hiroyuki, Ishigaki Daisuke

机构信息

Department of Orthopaedic Surgery, Yamagata University School of Medicine, Iida-Nishi, Yamagata, Japan.

出版信息

Congenit Anom (Kyoto). 2003 Dec;43(4):302-5. doi: 10.1111/j.1741-4520.2003.tb01017.x.

DOI:10.1111/j.1741-4520.2003.tb01017.x

PMID:15041782

Abstract

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.

摘要

多数Apert综合征病例是由成纤维细胞生长因子受体2（FGFR2）基因中的S252W或P253R突变引起的。已经对S252W和P253R突变对Apert综合征临床特征的影响差异进行了研究，但对于伴有肱桡关节融合的Apert综合征中FGFR2突变类型知之甚少。为了研究FGFR2突变与临床并发症之间的相关性，我们检测了一名伴有肱桡关节融合的Apert综合征患者的FGFR2基因，发现该突变是S252W。本报告提示，FGFR2中的S252W突变可能导致Apert综合征中的肱桡关节融合。