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Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
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2005 (English)In: Nat Genet, Vol. 37, no 2, p. 125-7Article in journal (Refereed) Published
Abstract [en]

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, p. 125-7
Keywords [en]
Animals, Base Sequence, 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, Medical Genetics, Medicinsk genetik
National Category
Medical Genetics
Research subject
Molecular Genetics
Identifiers
URN: urn:nbn:se:uu:diva-373433OAI: oai:DiVA.org:uu-373433DiVA, id: diva2:1301164
Conference
2005-09-20T18:43:00.000+02:00
Note

article; 2019-01-14T15:15:12.996+01:00

Available from: 2019-04-01 Created: 2019-04-01 Last updated: 2019-04-01

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