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Brief Communication

Nature Genetics 38, 414–417 (1 April 2006) | doi:10.1038/ng1757

Mutations in different components of FGF signaling in LADD syndrome

Edyta Rohmann , Han G Brunner , H|[uuml]|lya Kayserili , Oya Uyguner , Gudrun N|[uuml]|rnberg , Erin D Lew , Angus Dobbie , Veraragavan P Eswarakumar , Abdullah Uzumcu , Melike Ulubil-Emeroglu , Jules G Leroy , Yun Li , Christian Becker , Kai Lehnerdt , Cor W R J Cremers , Memnune Y|[uuml]|ksel-Apak , Peter N|[uuml]|rnberg , Christian Kubisch , Joseph Schlessinger , Hans van Bokhoven & Bernd Wollnik

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.