Mutations in the gene encoding fibroblast growth factor 10 are associated with

• 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

Animals

Base Sequence

Chromosomes; Human; Pair 5

Fibroblast Growth Factors/*genetics

Genes; Dominant

Heterozygote

Humans

Lacrimal Apparatus/*abnormalities

Mice

Molecular Sequence Data

Mutation

Pedigree

Research Support; Non-U.S. Gov't

Salivary Glands/*abnormalities

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)