Mutations in different components of FGF signaling in LADD syndrome

  • Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757.
Edyta Rohmann  1 ,  Han G Brunner ,  Hülya Kayserili ,  Oya Uyguner ,  Gudrun Nürnberg ,  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 Yüksel-Apak ,  Peter Nürnberg ,  Christian Kubisch ,  Joseph Schlessinger ,  Hans van Bokhoven ,  Bernd Wollnik
Affiliations
  • 1. Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
PMID: 16501574 DOI: 10.1038/ng1757
Abstract

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.