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Nonconsensus intronic mutations cause episodic ataxia

✍ Scribed by Jijun Wan; Janai R. Carr; Robert W. Baloh; Joanna C. Jen

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 395 KB
Volume: 57
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.20343

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✦ Synopsis

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. Ann Neurol 2005;57:131–135

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