Nature Genetics 38, 414 - 417 (2006)
Published online: 26 February 2006; | doi:10.1038/ng1757
There is an Erratum (April 2006) associated with this Brief Communication.
Mutations in different components of FGF signaling in LADD syndromeEdyta Rohmann1, 2, Han G Brunner3, Hülya Kayserili4, Oya Uyguner4, Gudrun Nürnberg5, 6, Erin D Lew7, Angus Dobbie8, Veraragavan P Eswarakumar7, Abdullah Uzumcu4, Melike Ulubil-Emeroglu9, Jules G Leroy10, Yun Li1, 2, Christian Becker5, 6, Kai Lehnerdt11, Cor W R J Cremers12, Memnune Yüksel-Apak4, Peter Nürnberg5, 13, Christian Kubisch2, 13, Joseph Schlessinger7, Hans van Bokhoven3
& Bernd Wollnik1, 2, 41
Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany. 2
Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany. 3
Department of Human Genetics, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands. 4
Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34390 Istanbul, Turkey. 5
Cologne Center for Genomics, University of Cologne, 50674 Cologne, Germany. 6
RZPD Deutsches Ressourcenzentrum für Genomforschung GmbH, 14059 Berlin, Germany. 7
Department of Pharmacology, Yale University School of Medicine, New Haven, Connecticut 06520, USA. 8
Genetic Service, St. James's University Hospital, LS97TS Leeds, UK. 9
Ear, Nose and Throat Department, Istanbul Medical Faculty, Istanbul University, 34390 Istanbul, Turkey. 10
Department of Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium. 11
HNO-Abteilung, Klinikum Dortmund, 44137 Dortmund, Germany. 12
Otorhinolaryngology, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands. 13
Institute for Genetics, University of Cologne, 50674 Cologne, Germany.
Correspondence should be addressed to Bernd Wollnik bwollnik@uni-koeln.de 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.
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