Mutations in the gene encoding fibroblast growth factor 10 are associated with
2005 (English)In: Nat Genet, ISSN 1061-4036, Vol. 37, no 2, 125-7 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2005. Vol. 37, no 2, 125-7 p.
Animals, Base Sequence, Chromosomes; Human; Pair 5, Fibroblast Growth Factors/*genetics, Genes; Dominant, Heterozygote, Humans, Lacrimal Apparatus/*abnormalities, Mice, Molecular Sequence Data, Mutation, Pedigree, Research Support; Non-U.S. Gov't, Salivary Glands/*abnormalities
IdentifiersURN: urn:nbn:se:uu:diva-73178PubMedID: 15654336OAI: oai:DiVA.org:uu-73178DiVA: diva2:101089