Molecular pathology of the fibroblast growth factor family.

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Authors

KREJČÍ Pavel PROCHÁZKOVÁ Jiřina BRYJA Vítězslav KOZUBÍK Alois WILCOX William

Year of publication 2009
Type Article in Periodical
Magazine / Source Human Mutation
MU Faculty or unit

Faculty of Science

Citation
Web http://dx.doi.org/10.1002/humu.21067
Doi http://dx.doi.org/10.1002/humu.21067
Field Genetics and molecular biology
Keywords fibroblast growth factor; FGF; disease; mutation; genetics; human
Description The human fibroblast growth factor (FGF) family contains 22 proteins that regulate a plethora of physiological processes in both developing and adult organism. The mutations in the FGF genes were not known to play role in human disease until the year 2000, when mutations in FGF23 were found to cause hypophosphatemic rickets. Nine years later, seven FGFs have been associated with human disorders. These include FGF3 in Michel aplasia; FGF8 in cleft lip/palate and in hypogonadotropic hypogonadism; FGF9 in carcinoma; FGF10 in the lacrimal/salivary glands aplasia, and lacrimo-auriculo-dento-digital syndrome; FGF14 in spinocerebellar ataxia; FGF20 in Parkinson disease; and FGF23 in tumoral calcinosis and hypophosphatemic rickets. The heterogeneity in the functional consequences of FGF mutations, the modes of inheritance, pattern of involved tissues/organs, and effects in different developmental stages provide fascinating insights into the physiology of the FGF signaling system. We review the current knowledge about the molecular pathology of the FGF family.
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