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 FCF10 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. © 2005 Nature Publishing Group.
CITATION STYLE
Entesarian, M., Matsson, H., Klar, J., Bergendal, B., Olson, L., Arakaki, R., … Dahl, N. (2005). Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nature Genetics, 37(2), 125–127. https://doi.org/10.1038/ng1507
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