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    Nat Genet. 2006 Apr;38(4):414-7. Epub 2006 Feb 26.

    Mutations in different components of FGF signaling in LADD syndrome.

    Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B.

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    Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.

    Erratum in

    • Nat Genet. 2006 Apr;38(4):495. Kubisch, Chriütian [corrected to Kubisch, Christian].

    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.

    PMID:
    16501574
    [PubMed - indexed for MEDLINE]

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