title: Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).
abstract: Autosomal recessive cerebellar ataxia with ocular apraxia type 2 (AOA2) is a neurodegenerative disorder characterised by early onset cerebellar ataxia, sensory-motor neuropathy and frequently increased levels of alpha-fetoprotein. We describe a male patient with a phenotype highly suggestive of AOA2, but only one point mutation found by sequencing of the SETX gene. Further analysis revealed a large out-of-frame tandem duplication, encompassing exons 7, 8, 9 and 10. This duplication event occurred obviously by unequal homologous recombination between AluY sequences. Gross SETX deletions or duplications might be an underestimated cause of AOA2.
authors.affiliation: Department of Human Genetics, Ruhr University, Bochum, Germany. larissa.arning@rub.de
authors.forename: Larissa
authors.initials: L
authors.lastname: Arning
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
authors.forename: Huriye
authors.initials: H
authors.lastname: Cin
authors.forename: Manfred
authors.initials: M
authors.lastname: Souquet
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
authors.forename: Dagmar
authors.initials: D
authors.lastname: Timmann
mesh_terms: D000328:Adult; D020087:Alu Elements; D001072:Apraxias / Q000150:complications / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D004247:DNA / Q000235:genetics; D004265:DNA Helicases; D004252:DNA Mutational Analysis; D005091:Exons; D020440:Gene Duplication; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D064251:Multifunctional Enzymes; D010641:Phenotype; D020365:RNA Helicases / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D064251:Multifunctional Enzymes; D004247:DNA; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases