Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
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.
Entesarian
Miriam
M
Department of Genetics and Pathology, Uppsala University, The Rudbeck laboratory, SE-751 85 Uppsala, Sweden.
Matsson
Hans
H
Klar
Joakim
J
Bergendal
Birgitta
B
Olson
Lena
L
Arakaki
Rieko
R
Hayashi
Yoshio
Y
Ohuchi
Hideyo
H
Falahat
Babak
B
Bolstad
Anne Isine
AI
Jonsson
Roland
R
Wahren-Herlenius
Marie
M
Dahl
Niklas
N
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*
C496463:FGF10 protein, human; C496464:Fgf10 protein, mouse; D051526:Fibroblast Growth Factor 10; D005346:Fibroblast Growth Factors