Nonconsensus intronic mutations cause episodic ataxia

Jijun Wan, Janai R. Carr, Robert W. Baloh, Joanna C. Jen

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

We discovered intronic mutations in two episodic ataxia type 2 (EA2) families: a four-nucleotide GAGT deletion at IVS41+(3-6) and a single nucleotide insertion (insT) at IVS24+3. We expressed minigenes harboring the mutations in cell lines to demonstrate exon skipping from the deletion mutation and the activation of a cryptic splice donor site from the insertion mutation. The identification of these disease-causing mutations expands the spectrum of EA2 mutations and emphasizes the importance of intronic sequences in regulating gene expression.

Original languageEnglish (US)
Pages (from-to)131-135
Number of pages5
JournalAnnals of Neurology
Volume57
Issue number1
DOIs
StatePublished - Jan 1 2005

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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