A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.

BMC Medical Genetics
Paschalis NicolaouKyproula Christodoulou

Abstract

Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (AFP). Here, we report a novel Senataxin mutation in a Cypriot ARCA family. We studied several Cypriot autosomal recessive cerebellar ataxia (ARCA) families for linkage to known ARCA gene loci. We linked one family (909) to the SETX locus on chromosome 9q34 and screened the proband for mutations by direct sequencing. Sequence analysis revealed a novel c.5308_5311delGAGA mutation in exon 11 of the SETX gene. The mutation has not been detected in 204 control chromosomes from the Cypriot population, the remaining Cypriot ARCA families and 37 Cypriot sporadic cerebellar ataxia patients. We identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with ARCA with cerebellar atrophy and raised AFP.

References

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Citations

Jan 16, 2009·Nature Reviews. Neuroscience·Peter J McKinnon
Sep 12, 2009·BMC Medical Genetics·Veronica BernardChristine Zühlke
Oct 3, 2012·Journal of the Neurological Sciences·Christina VotsiKyproula Christodoulou
Nov 30, 2010·DNA Repair·Andrea De AmicisLuciana Chessa
Dec 17, 2008·Seminars in Pediatric Neurology·Wei Liu, Vinodh Narayanan
Jul 21, 2009·Muscle & Nerve·José GazullaMichel Koenig
Nov 21, 2013·Annals of Human Genetics·Christina VotsiKyproula Christodoulou
Nov 2, 2013·NeuroImage. Clinical·Solène FrismandCaroline Tilikete
Dec 19, 2018·Intractable & Rare Diseases Research·Hussein AlgahtaniAngham Abdulrahman Abdulkareem
Mar 19, 2021·Neuroradiology·Sirio CocozzaArturo Brunetti

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Datasets Mentioned

BETA
51467290

Methods Mentioned

BETA
electrophoresis
PCR

Software Mentioned

LINKAGE
CEQ8000

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