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

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

Research output: Contribution to journalArticlepeer-review

109 Citations (Scopus)

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 FCF10 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.

Original languageEnglish
Pages (from-to)125-127
Number of pages3
JournalNature Genetics
Volume37
Issue number2
DOIs
Publication statusPublished - Feb 1 2005
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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