Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

Alessia Micalizzi, Isabella Moroni, Monia Ginevrino, Tommaso Biagini, Tommaso Mazza, Marta Romani, Enza Maria Valente

Research output: Contribution to journalArticle

Abstract

Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent ambulation. Recessive loss-of-function mutations in the very low density lipoprotein receptor (VLDLR) gene represent the most common cause of DES. Only two families have been reported harbouring homozygous missense mutations, both with a similarly severe phenotype. We report an Italian girl with very mild DES caused by the novel homozygous VLDLR missense mutation p.(C419Y). This unusually benign phenotype possibly relates to a less disruptive effect of the mutation, falling within a domain (EGF-B) not predicted as crucial for the protein function.

Original languageEnglish
Pages (from-to)191-195
Number of pages5
JournalNeurogenetics
Volume17
Issue number3
DOIs
Publication statusPublished - Jul 1 2016

Keywords

  • Dysequilibrium syndrome
  • Next-generation sequencing
  • Non-progressive cerebellar ataxia
  • Pontocerebellar hypoplasia
  • VLDLR

ASJC Scopus subject areas

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

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