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- Title
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
- Authors
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
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.
- Subjects
PURE red cell aplasia; LACRIMAL apparatus; SALIVARY glands; FIBROBLAST growth factors; EYE; PHENOTYPES
- Publication
Nature Genetics, 2005, Vol 37, Issue 2, p125
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1507