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Neurogenetics. 2008 Oct;9(4):295-9. doi: 10.1007/s10048-008-0139-z. Epub 2008 Jul 29.

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

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1
Department of Human Genetics, Ruhr University, Bochum, Germany. larissa.arning@rub.de

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.

PMID:
18663494
DOI:
10.1007/s10048-008-0139-z
[Indexed for MEDLINE]
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