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PMID:15654336

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Citation

Entesarian, M, Matsson, H, Klar, J, Bergendal, B, Olson, L, Arakaki, R, Hayashi, Y, Ohuchi, H, Falahat, B, Bolstad, AI, Jonsson, R, Wahren-Herlenius, M and Dahl, N (2005) Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat. Genet. 37:125-7

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.

Links

PubMed Online version:10.1038/ng1507

Keywords

Animals; Base Sequence; Chromosomes, Human, Pair 5; Fibroblast Growth Factor 10; Fibroblast Growth Factors/genetics; Genes, Dominant; Heterozygote; Humans; Lacrimal Apparatus/abnormalities; Mice; Molecular Sequence Data; Mutation; Pedigree; Salivary Glands/abnormalities

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:FGF10

acts_upstream_of_or_within

GO:0007435: salivary gland morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1859647

P

  • has_participant:(EMAPA:18812)

Seeded From UniProt

complete

MOUSE:FGF10

acts_upstream_of_or_within

GO:0032808: lacrimal gland development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1859647

P

  • results_in_development_of:(EMAPA:35463)

Seeded From UniProt

complete

MOUSE:FGF10

acts_upstream_of_or_within

GO:0032808: lacrimal gland development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1859647

P

results_in_development_of:(EMAPA:35463)

Seeded From UniProt

complete

MOUSE:FGF10

acts_upstream_of_or_within

GO:0007435: salivary gland morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1859647

P

has_participant:(EMAPA:18812)

Seeded From UniProt

complete


See also

References

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