title: Mutations in different components of FGF signaling in LADD syndrome.
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.
authors.affiliation: Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
authors.forename: Edyta
authors.initials: E
authors.lastname: Rohmann
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
authors.forename: Oya
authors.initials: O
authors.lastname: Uyguner
authors.forename: Gudrun
authors.initials: G
authors.lastname: Nürnberg
authors.forename: Erin D
authors.initials: ED
authors.lastname: Lew
authors.forename: Angus
authors.initials: A
authors.lastname: Dobbie
authors.forename: Veraragavan P
authors.initials: VP
authors.lastname: Eswarakumar
authors.forename: Abdullah
authors.initials: A
authors.lastname: Uzumcu
authors.forename: Melike
authors.initials: M
authors.lastname: Ulubil-Emeroglu
authors.forename: Jules G
authors.initials: JG
authors.lastname: Leroy
authors.forename: Yun
authors.initials: Y
authors.lastname: Li
authors.forename: Christian
authors.initials: C
authors.lastname: Becker
authors.forename: Kai
authors.initials: K
authors.lastname: Lehnerdt
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
authors.forename: Memnune
authors.initials: M
authors.lastname: Yüksel-Apak
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Christian
authors.initials: C
authors.lastname: Kubisch
authors.forename: Chriütian
authors.initials: C
authors.lastname: Kubisch
authors.forename: Joseph
authors.initials: J
authors.lastname: Schlessinger
authors.forename: Hans
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: Bernd
authors.initials: B
authors.lastname: Wollnik
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D005346:Fibroblast Growth Factors / Q000378:metabolism*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D015398:Signal Transduction; D013577:Syndrome
chemical_list: D005346:Fibroblast Growth Factors; C496353:FGFR2 protein, human; C496365:FGFR3 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3