2. Academic Validation
  3. Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

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

Affiliation

  • 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.

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