Molecular pathology of the fibroblast growth factor family.
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.
Krejci
Pavel
P
Department of Immunology and Animal Physiology, Institute of Experimental Biology, Masaryk University, Brno, Czech Republic. krejcip@sci.muni.cz
Prochazkova
Jirina
J
Bryja
Vitezslav
V
Kozubik
Alois
A
Wilcox
William R
WR
D000015:Abnormalities, Multiple / Q000235:genetics; D002277:Carcinoma / Q000235:genetics / Q000378:metabolism; D002971:Cleft Lip / Q000235:genetics / Q000378:metabolism; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007006:Hypogonadism / Q000235:genetics / Q000378:metabolism; D009154:Mutation
C000717427:FGF23 protein, human; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23