Mutations in different components of FGF signaling in LADD syndrome

• Published in: Nature genetics Vol. 38; no. 4; pp. 414 - 417
• Main Authors: Wollnik, Bernd, 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
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.04.2006
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Complications and side effects; Developmental disabilities; Diagnosis; Ectodermal dysplasia; Female; Fibroblast growth factors; Fibroblast Growth Factors - metabolism; Fundamental and applied biological sciences. Psychology; Gene mutations; Genetic aspects; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Humans; Identification and classification; Male; Mutation; Pedigree; Physiological aspects; Receptor, Fibroblast Growth Factor, Type 2 - genetics; Receptor, Fibroblast Growth Factor, Type 3 - genetics; Risk factors; Signal Transduction; Syndrome; Germany; Fibroblast growth factor; LADD syndrome; Mutation
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng1757

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.