Article
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
Nature genetics - 1 Feb 2005
Entesarian Miriam, Matsson Hans, Klar Joakim, Bergendal Birgitta, Olson Lena, Arakaki Rieko, Hayashi Yoshio, Ohuchi Hideyo, Falahat Babak, Bolstad Anne Isine, Jonsson Roland, Wahren-Herlenius Marie, Dahl Niklas
Abstract excerpt
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...
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