Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

@article{Entesarian2005MutationsIT,
  title={Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands},
  author={Miriam Entesarian and Hans Matsson and Joakim Klar and Birgitta Bergendal and L. Olson and Rieko Arakaki and Yoshio Hayashi and Hideyo Ohuchi and Babak Falahat and Anne Isine Bolstad and Roland Jonsson and Marie Wahren-Herlenius and Niklas Dahl},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={125-128}
}
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 missense mutations in aplasia of lacrimal and salivary glands (ALSG)
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Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway
TLDR
These experiments show that the biological activities of three different FGF10 LADD mutants are severely impaired by different mechanisms and that relatively small changes in receptor signaling may influence the outcome of developmental processes in cells or organs that do not possess redundant signaling pathway.
Salivary Gland Dysplasia in Fgf10 Heterozygous Mice: A New Mouse Model of Xerostomia
TLDR
Analysis of saliva secretion showed that hypoplasia of the glands led to a significant reduction in saliva production in Fgf10 +/- adults, giving rise to a reduced saliva pellicle in the oral cavity of these mice.
Salivary Gland Diseases
TLDR
The genetic mutations that underlie autosomal dominant, autosomal recessive, and X-linked salivary gland abnormalities are discussed, as well as the role of genetic factors on the predisposition and phenotypic variation of other autoimmune and granulomatous disorders.
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