title: Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.
abstract: Ataxia with oculomotor apraxia type 2 (AOA2) is caused by a diversity of mutations within the coding region of the senataxin gene. Recently, rare noncoding senataxin mutations affecting RNA processing have been identified in AOA2. Here, we report the case of an 18-year-old woman, with classic clinical features of AOA2, who was found to harbor a mutation within senataxin intron 16. This mutation disrupts the local 5' splice site architecture via a novel intronic frameshift mechanism, causing skipping of exon 16 with predicted disruption of the conserved DNA/RNA helicase domain. RNA processing mutations expand the growing complexity of pathogenic senataxin mutations.
authors.affiliation: Department of Neurology, UCLA Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095, USA. bfogel@ucla.edu
authors.forename: Brent L
authors.initials: BL
authors.lastname: Fogel
authors.forename: Ji Yong
authors.initials: JY
authors.lastname: Lee
authors.forename: Susan
authors.initials: S
authors.lastname: Perlman
mesh_terms: D000293:Adolescent; D001072:Apraxias / Q000150:complications* / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000150:complications* / Q000235:genetics*; D004265:DNA Helicases; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D064251:Multifunctional Enzymes; D020365:RNA Helicases / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*
chemical_list: D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases