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

Nature Genetics volume 37, pages 125–128 (2005)Cite this article

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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Figure 1: ALSG mapping.
Figure 2: Salivary and lacrimal gland apparatuses of wild-type and Fgf10+/− mice.

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GenBank/EMBL/DDBJ

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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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Authors and Affiliations

  1. Department of Genetics and Pathology, Uppsala University, The Rudbeck laboratory, Uppsala, SE-751 85, Sweden

    Miriam Entesarian, Hans Matsson, Joakim Klar & Niklas Dahl

  2. National Oral Disability Centre, The Institute for Postgraduate Dental Education, Box 1030, Jönköping, SE-551 11, Sweden

    Birgitta Bergendal

  3. Department of Pediatric Dentistry, The Institute for Postgraduate Dental Education, Box 1030, Jönköping, SE-551 11, Sweden

    Lena Olson

  4. Department of Oral Molecular Pathology, Institute of Health Bioscience, The University of Tokushima Graduate School, University of Tokushima, Tokushima, 770-8506, Japan

    Rieko Arakaki & Yoshio Hayashi

  5. Department of Biological Science and Technology, Faculty of Engineering, University of Tokushima, Tokushima, 770-8506, Japan

    Hideyo Ohuchi

  6. Department of Maxillofacial Radiology, The Institute for Postgraduate Dental Education, Box 1030, Jönköping, SE-551 11, Sweden

    Babak Falahat

  7. Department of Odontology-Periodontics, Faculty of Dentistry, University of Bergen, Aarstedveien 17, Bergen, N-5009, Norway

    Anne Isine Bolstad

  8. Broegelmann Research Laboratory, The Gade Institute, University of Bergen, Armauer Hansen Building, Bergen, N-5021, Norway

    Roland Jonsson

  9. Department of Medicine, Karolinska Institutet, Stockholm, SE-171 76, Sweden

    Marie Wahren-Herlenius

Authors
  1. Miriam Entesarian
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  2. Hans Matsson
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  7. Yoshio Hayashi
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  8. Hideyo Ohuchi
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  9. Babak Falahat
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  10. Anne Isine Bolstad
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  11. Roland Jonsson
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  12. Marie Wahren-Herlenius
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  13. Niklas Dahl
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Corresponding author

Correspondence to Niklas Dahl.

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Competing interests

The authors declare no competing financial interests.

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)

Supplementary Methods (PDF 51 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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