Mutations in different components of FGF signaling in LADD syndrome

Rohmann E., Brunner H., Kayserili H., Uyguner O., Nurnberg G., Lew E., ...Daha Fazla

NATURE GENETICS, cilt.38, sa.4, ss.414-417, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 4
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1038/ng1757
  • Dergi Adı: NATURE GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.414-417
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.