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

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

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Department of Genetics and Pathology, Uppsala University, The Rudbeck laboratory, SE-751 85 Uppsala, Sweden.


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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