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.
Miriam Entesarian  1 ,  Hans Matsson ,  Joakim Klar ,  Birgitta Bergendal ,  Lena Olson ,  Rieko Arakaki ,  Yoshio Hayashi ,  Hideyo Ohuchi ,  Babak Falahat ,  Anne Isine Bolstad ,  Roland Jonsson ,  Marie Wahren-Herlenius ,  Niklas Dahl
Affiliations
  • 1. Department of Genetics and Pathology, Uppsala University, The Rudbeck laboratory, SE-751 85 Uppsala, Sweden.
PMID: 15654336 DOI: 10.1038/ng1507
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.