A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome
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DOI：
10.1038/sj.ejhg.5201325
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发表时间：
2005-04-01
影响因子：
5.2
通讯作者：
Wilkie, AOM
中科院分区：
文献类型：
--
作者：
de Ravel, TJL;Taylor, IB;Wilkie, AOM
我们报道了一个新发现的 FGFR2 基因酪氨酸激酶 I 结构域突变（1576A4G，编码错义取代 Lys526Glu）的家族杂合子，该突变与克鲁松综合征的可变表达性（包括临床不外显率）相关。我们的观察扩大了这一不寻常的 FGFR2 突变子集的临床和分子谱。
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene ( 1576A4G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations.