Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene: FGF14 - fibroblast growth factor 14

Homo sapiens

Synonyms: FGF-14, FHF4, FHF-4, Fibroblast growth factor 14, Fibroblast growth factor homologous factor 4, MGC119129, SCA27

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van Swieten, J.C., Dalski, A., Wozniak, D.F., Lou, J.Y., Mihara, M., et al.

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Disease relevance of FGF14

We describe a large, three-generation family with early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia, not associated with any of the known SCA loci, and a mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34 [1].
Here, we demonstrate that FGF14 interacts directly with multiple voltage-gated Na(+) (Nav) channel alpha subunits heterologously expressed in non-neuronal cells or natively expressed in a murine neuroblastoma cell line [2].
To evaluate the frequency of mutations in the FGF14 gene, we performed molecular genetic analyses for the five exons in 208 nonrelated familial ataxia cases and 208 control samples [3].
Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians [4].
Mice lacking FGF14 (Fgf14(-/-) mice) have impaired sensorimotor functions, ataxia and paroxysmal dyskinesia, a phenotype that led to the discovery of the human mutation [5].

High impact information on FGF14

The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia [1].
Our observations are in accordance with the occurrence of ataxia and paroxysmal dyskinesia in Fgf14-knockout mice [1].
When demethylation was induced in cell lines with their methylation by 5-aza-2'-deoxycytidine, expression of ZIK1, KAL1, and FGF14 was restored, supporting causal roles of methylation in their silencing [6].
Spinocerebellar ataxia 27 (SCA27) is a recently described syndrome characterized by impaired cognitive abilities and a slowly progressive ataxia [5].
SCA27 is caused by an autosomal dominant missense mutation in Fibroblast Growth Factor 14 (FGF14) [5].

Biological context of FGF14

Recently, a missense mutation in the fibroblast growth factor 14 gene (FGF14) has been reported in a Dutch family with a new dominantly inherited form of SCA [3].
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias [3].

References

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. van Swieten, J.C., Brusse, E., de Graaf, B.M., Krieger, E., van de Graaf, R., de Koning, I., Maat-Kievit, A., Leegwater, P., Dooijes, D., Oostra, B.A., Heutink, P. Am. J. Hum. Genet. (2003)
Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels. Lou, J.Y., Laezza, F., Gerber, B.R., Xiao, M., Yamada, K.A., Hartmann, H., Craig, A.M., Nerbonne, J.M., Ornitz, D.M. J. Physiol. (Lond.) (2005)
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Dalski, A., Atici, J., Kreuz, F.R., Hellenbroich, Y., Schwinger, E., Zühlke, C. Eur. J. Hum. Genet. (2005)
Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Stevanin, G., Durr, A., Dussert, C., Penet, C., Brice, A. Neurology (2004)
Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14. Wozniak, D.F., Xiao, M., Xu, L., Yamada, K.A., Ornitz, D.M. Neurobiol. Dis. (2007)
Methylation of multiple genes in gastric glands with intestinal metaplasia: a disorder with polyclonal origins. Mihara, M., Yoshida, Y., Tsukamoto, T., Inada, K., Nakanishi, Y., Yagi, Y., Imai, K., Sugimura, T., Tatematsu, M., Ushijima, T. Am. J. Pathol. (2006)

Gene: FGF14 - fibroblast growth factor 14

Homo sapiens

Disease relevance of FGF14

High impact information on FGF14

Biological context of FGF14

References

Editor

Links

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