NDLI: FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion

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FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion

Content Provider	Springer Nature Link
Author	Zanni, Ginevra Barresi, Sabina Travaglini, Lorena Bernardini, Laura Rizza, Teresa Digilio, Maria Cristina Mercuri, Eugenio Cianfarani, Stefa Valeriani, Massimilia Ferraris, Alessandro Sacco, Letizia velli, Antonio Valente, Enza Maria Dallapiccola, Bru Bertini, Enrico Silvio
Copyright Year	2011
Abstract	Fibroblast growth factors (FGFs) are important signaling molecules which act during early vertebrate central nervous system development. FGF17, together with FGF8, is a key factor in the patterning of the mid-hindbrain region with a complex picture of spatiotemporal gene expression during the various stages of cerebellar development. Disruption or reduced expression of fgf17 in mice has been associated with cerebellar vermis abnormalities. We have identified a de novo 2.3-Mb deletion of chromosome 8p21.2-p21.3 in a girl with severe growth retardation, seizures, and classical Dandy–Walker malformation. Analysis of gene expression in blood lymphocytes and skin fibroblasts revealed markedly reduced levels of FGF17, which is located 1 Mb from the proximal deletion breakpoint. This is the first report of a human cerebellar malformation associated with transcriptional downregulation of the FGF17 gene.
Starting Page	241
Ending Page	245
Page Count	5
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	12
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-04-12
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	FGF17 Cerebellum Dandy–Walker malformation Chromosome 8p Molecular Medicine Human Genetics Neurosciences
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion