Mutations in different components of FGF signaling in LADD syndrome.
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.
Rohmann
Edyta
E
Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
Brunner
Han G
HG
Kayserili
Hülya
H
Uyguner
Oya
O
Nürnberg
Gudrun
G
Lew
Erin D
ED
Dobbie
Angus
A
Eswarakumar
Veraragavan P
VP
Uzumcu
Abdullah
A
Ulubil-Emeroglu
Melike
M
Leroy
Jules G
JG
Li
Yun
Y
Becker
Christian
C
Lehnerdt
Kai
K
Cremers
Cor W R J
CW
Yüksel-Apak
Memnune
M
Nürnberg
Peter
P
Kubisch
Christian
C
Kubisch
Chriütian
C
Schlessinger
Joseph
J
van Bokhoven
Hans
H
Wollnik
Bernd
B
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
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