Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
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Pfeiffer综合征FGFR2基因突变谱分析
DOI：
10.1007/s004390050979
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发表时间：
1999-05-01
期刊：
影响因子：
5.3
通讯作者：
Muenke, M
中科院分区：
文献类型：
--
作者：
Cornejo-Roldan, LR;Roessler, E;Muenke, M
Pfeiffer 综合征 (PS) 是一种经典的颅缝早闭综合征，与人成纤维细胞生长因子受体 (FGFR) 基因 FGFR1 和 FGFR2 的特定突变相关。在这项研究中，我们着手通过最灵敏的方法（直接 DNA 测序）在 78 名不相关的 PS 个体中检查 FGFR2 中最常与 PS 突变相关的外显子、外显子 IIIa 和 IIIc。我们在 40 名患者中总共鉴定出了 18 种不同的突变；其中八种突变以前从未被描述过。突变谱显示出非随机特征，经常涉及半胱氨酸密码子。
Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2. In this study, we set out to examine the exons in FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a panel of 78 unrelated individuals with PS by the most sensitive method (direct DNA sequencing). We have identified a total of 18 different mutations among 40 patients; eight of these mutations have not been previously described. The mutational spectrum displays a non-random character with the frequent involvement of cysteine codons.