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

Author

Entesarian, Miriam, Matsson, Hans, Klar, Joakim, Bergendal, Birgitta, Olson, Lena, Arakaki, Rieko, Hayashi, Yoshio, Ohuchi, Hideyo, Falahat, Babak, Bolstad, Anne Isine, Jonsson, Roland, Wahren-Herlenius, Marie, and Dahl, Niklas

Subjects
*PURE red cell aplasia, *LACRIMAL apparatus, *SALIVARY glands, *FIBROBLAST growth factors, *EYE, *PHENOTYPES
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. [ABSTRACT FROM AUTHOR]

Published
2005
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