title: Nonconsensus intronic mutations cause episodic ataxia.
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.
authors.affiliation: Department of Neurology, University of California at Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095-1769, USA.
authors.forename: Jijun
authors.initials: J
authors.lastname: Wan
authors.forename: Janai R
authors.initials: JR
authors.lastname: Carr
authors.forename: Robert W
authors.initials: RW
authors.lastname: Baloh
authors.forename: Joanna C
authors.initials: JC
authors.lastname: Jen
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D001259:Ataxia / Q000235:genetics*; D019556:COS Cells; D020746:Calcium Channels, L-Type; D002648:Child; D002522:Chlorocebus aethiops; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012326:RNA Splicing / Q000502:physiology; D012342:RNA, Small Nuclear / Q000502:physiology; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D014162:Transfection / Q000379:methods
chemical_list: C079146:CACNA1C protein, human; D020746:Calcium Channels, L-Type; D009419:Nerve Tissue Proteins; D012342:RNA, Small Nuclear