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.
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Acknowledgements
We thank the family members that participated in this study, N. Hagwall and M. Wyon for ophthalmologic examinations and L. Cato and Uppsala Genome Center. This work was supported by grants to N.D. from the Swedish Research Council, Swedish Cancer Society, Childrens' Cancer Foundation of Sweden, the Torsten and Ragnar Söderbergs Fund, the Borgström Foundation and Uppsala University.
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Supplementary information
Supplementary Fig. 1
Magnetic resonance imaging of lacrimal and salivary glands. (PDF 58 kb)
Supplementary Fig. 2
Amplicons generated by long-range PCR of the FGF10 region in DNA from individual III:2 of family 1 and a control. (PDF 20 kb)
Supplementary Table 1
Summary of clinical examination of affected individuals in family 1 and 2. (PDF 10 kb)
Supplementary Table 2
Two-point lod scores between chromosome 5 markers and the locus for aplasia of lacrimal and salivary glands. (PDF 47 kb)
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Entesarian, M., Matsson, H., Klar, J. et al. Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat Genet 37, 125–128 (2005). https://doi.org/10.1038/ng1507
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DOI: https://doi.org/10.1038/ng1507
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