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

Eugenio Maria Mercuri, Lucia Bernardini, G Zanni, S Barresi, L Travaglini, T Rizza, Mc Digilio, S Cianfarani, Massimiliano Valeriani, A Ferraris, L Da Sacco, Andrea Novelli, Em Valente, B Dallapiccola, Es Bertini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

17 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)241-245
Numero di pagine5
RivistaNeurogenetics
Volume12
DOI
Stato di pubblicazionePubblicato - 2011

Keywords

  • Cerebellum
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 8
  • Comparative Genomic Hybridization
  • Dandy-Walker Syndrome
  • Down-Regulation
  • Female
  • Fibroblast Growth Factor 8
  • Gene Expression Profiling
  • Humans

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