Mutations in different components of FGF signaling in LADD syndrome.

Article Details

Citation

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

Mutations in different components of FGF signaling in LADD syndrome.

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

PubMed ID
16501574 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Fibroblast growth factor receptor 2P21802Details
Fibroblast growth factor receptor 3P22607Details