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Brief Communication
Nature Genetics  37, 125 - 128 (2005)
Published online: 16 January 2005; | doi:10.1038/ng1507

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

Miriam Entesarian1, Hans Matsson1, Joakim Klar1, Birgitta Bergendal2, Lena Olson3, Rieko Arakaki4, Yoshio Hayashi4, Hideyo Ohuchi5, Babak Falahat6, Anne Isine Bolstad7, Roland Jonsson8, Marie Wahren-Herlenius9 & Niklas Dahl1

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

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

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

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

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

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

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

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

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

Correspondence should be addressed to Niklas Dahl niklas.dahl@genpat.uu.se
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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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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