拉综合征（LADD syndrome）中FGF信号通路不同组分的突变
Mutations in different components of FGF signaling in LADD syndrome.
作者信息
Rohmann Edyta, Brunner Han G, Kayserili Hülya, Uyguner Oya, Nürnberg Gudrun, Lew Erin D, Dobbie Angus, Eswarakumar Veraragavan P, Uzumcu Abdullah, Ulubil-Emeroglu Melike, Leroy Jules G, Li Yun, Becker Christian, Lehnerdt Kai, Cremers Cor W R J, Yüksel-Apak Memnune, Nürnberg Peter, Kubisch Christian, Schlessinger Joseph, van Bokhoven Hans, Wollnik Bernd
机构信息
Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
出版信息
Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26.
Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand. These findings increase the spectrum of anomalies associated with abnormal FGF signaling.
泪腺-耳-齿-指（LADD）综合征的特征为泪管发育不全、耳部畸形与耳聋、牙齿过小及手指异常。我们在LADD家系中鉴定出编码成纤维细胞生长因子受体2和3（FGFR2、FGFR3）的基因酪氨酸激酶结构域中的杂合突变，并且在另外一个LADD家系中，我们检测到编码成纤维细胞生长因子10（FGF10，一种已知的FGFR配体）的基因发生突变。这些发现拓宽了与异常FGF信号传导相关的异常谱。
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