Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

Nat Genet. 2005 Feb;37(2):125-7. doi: 10.1038/ng1507. Epub 2005 Jan 16.

Abstract

Autosomal dominant aplasia of lacrimal and salivary glands (ALSG; OMIM 180920 and OMIM 103420) is a rare condition characterized by irritable eyes and dryness of the mouth. We mapped ALSG to 5p13.2-5q13.1, which coincides with the gene fibroblast growth factor 10 (FGF10). In two extended pedigrees, we identified heterozygous mutations in FGF10 in all individuals with ALSG. Fgf10(+/-) mice have a phenotype similar to ALSG, providing a model for this disorder. We suggest that haploinsufficiency for FGF10 during a crucial stage of development results in ALSG.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Chromosomes, Human, Pair 5
  • Fibroblast Growth Factor 10
  • Fibroblast Growth Factors / genetics*
  • Genes, Dominant
  • Heterozygote
  • Humans
  • Lacrimal Apparatus / abnormalities*
  • Mice
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Salivary Glands / abnormalities*

Substances

  • FGF10 protein, human
  • Fgf10 protein, mouse
  • Fibroblast Growth Factor 10
  • Fibroblast Growth Factors

Associated data

  • OMIM/103420
  • OMIM/180920
  • RefSeq/NM_004465