title: Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
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.
authors.affiliation: Department of Genetics and Pathology, Uppsala University, The Rudbeck laboratory, SE-751 85 Uppsala, Sweden.
authors.forename: Miriam
authors.initials: M
authors.lastname: Entesarian
authors.forename: Hans
authors.initials: H
authors.lastname: Matsson
authors.forename: Joakim
authors.initials: J
authors.lastname: Klar
authors.forename: Birgitta
authors.initials: B
authors.lastname: Bergendal
authors.forename: Lena
authors.initials: L
authors.lastname: Olson
authors.forename: Rieko
authors.initials: R
authors.lastname: Arakaki
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Hideyo
authors.initials: H
authors.lastname: Ohuchi
authors.forename: Babak
authors.initials: B
authors.lastname: Falahat
authors.forename: Anne Isine
authors.initials: AI
authors.lastname: Bolstad
authors.forename: Roland
authors.initials: R
authors.lastname: Jonsson
authors.forename: Marie
authors.initials: M
authors.lastname: Wahren-Herlenius
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
mesh_terms: D000818:Animals; D001483:Base Sequence; D002895:Chromosomes, Human, Pair 5; D051526:Fibroblast Growth Factor 10; D005346:Fibroblast Growth Factors / Q000235:genetics*; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012469:Salivary Glands / Q000002:abnormalities*
chemical_list: C496463:FGF10 protein, human; C496464:Fgf10 protein, mouse; D051526:Fibroblast Growth Factor 10; D005346:Fibroblast Growth Factors