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

  • Entesarian M
  • Matsson H
  • Klar J
 et al. 
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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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Authors

  • Joakim KlarUppsala University Department of Immunology, Genetics and Pathology

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  • Miriam Entesarian

  • Hans Matsson

  • Birgitta Bergendal

  • Lena Olson

  • Rieko Arakaki

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