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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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.

Original languageEnglish
Pages (from-to)241-245
Number of pages5
JournalNeurogenetics
Volume12
Issue number3
DOIs
Publication statusPublished - Aug 2011

Fingerprint

Dandy-Walker Syndrome
Down-Regulation
Gene Expression
Chromosome Deletion
Rhombencephalon
Fibroblast Growth Factors
Genes
Vertebrates
Seizures
Central Nervous System
Fibroblasts
Lymphocytes
Skin
Growth
Monosomy 8p Chromosome 8

Keywords

  • Cerebellum
  • Chromosome 8p
  • Dandy-Walker malformation
  • FGF17

ASJC Scopus subject areas

  • Genetics(clinical)
  • Cellular and Molecular Neuroscience
  • Genetics

Cite this

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title = "FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion",
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.",
keywords = "Cerebellum, Chromosome 8p, Dandy-Walker malformation, FGF17",
author = "Ginevra Zanni and Sabina Barresi and Lorena Travaglini and Laura Bernardini and Teresa Rizza and Digilio, {Maria Cristina} and Eugenio Mercuri and Stefano Cianfarani and Massimiliano Valeriani and Alessandro Ferraris and {Da Sacco}, Letizia and Antonio Novelli and Valente, {Enza Maria} and Bruno Dallapiccola and Bertini, {Enrico Silvio}",
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T1 - FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion

AU - Zanni, Ginevra

AU - Barresi, Sabina

AU - Travaglini, Lorena

AU - Bernardini, Laura

AU - Rizza, Teresa

AU - Digilio, Maria Cristina

AU - Mercuri, Eugenio

AU - Cianfarani, Stefano

AU - Valeriani, Massimiliano

AU - Ferraris, Alessandro

AU - Da Sacco, Letizia

AU - Novelli, Antonio

AU - Valente, Enza Maria

AU - Dallapiccola, Bruno

AU - Bertini, Enrico Silvio

PY - 2011/8

Y1 - 2011/8

N2 - 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.

AB - 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.

KW - Cerebellum

KW - Chromosome 8p

KW - Dandy-Walker malformation

KW - FGF17

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