Title:

Identification and characterisation of a large Senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2)

Authors:

Larissa Arning¹, Ludger Schöls², Huriye Cin¹, Manfred Souquet³, Jörg T. Epplen¹ and Dagmar Timmann<sup>4

1</sup>Department of Human Genetics, Ruhr University, 44780 Bochum, Germany; ²Department of Neurology, Hertie-Institute for Clinical Brain Research, Eberhard Karls University Tübingen, Germany; ³GenomeLab, Beckman Coulter Inc., Krefeld, Germany; ⁴Department of Neurology, University of Duisburg–Essen, Germany

Source:

Neurogenetics

Year:

2008 July; ISSN: 1364-6745 (Print) 1364-6753 (Online).

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.