Unknown

Dataset Information

0

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

ABSTRACT: BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: We identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with ARCA with cerebellar atrophy and raised AFP.

SUBMITTER: Nicolaou P 

PROVIDER: S-EPMC2330029 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Nicolaou Paschalis P   Georghiou Anthi A   Votsi Christina C   Middleton Lefkos T LT   Zamba-Papanicolaou Eleni E   Christodoulou Kyproula K  

BMC medical genetics 20080414

<h4>Background</h4>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.<h4>Methods</h4>We studied several Cypriot autosomal recessive cerebellar ataxia  ...[more]

Similar Datasets

Unknown A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
| S-EPMC5656760 | biostudies-literature
Unknown Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings.
| S-EPMC7425070 | biostudies-literature
Unknown A Novel <i>SPG7</i> Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia.
| S-EPMC8793673 | biostudies-literature
Unknown Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With <i>SYNE1</i> Mutation in a Chinese Family.
| S-EPMC8905644 | biostudies-literature
Unknown Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
| S-EPMC3846781 | biostudies-literature
Unknown SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment.
| S-EPMC6151335 | biostudies-literature
Unknown Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
| S-EPMC8282352 | biostudies-literature
Unknown Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
| S-EPMC3995328 | biostudies-literature
Unknown Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
| S-EPMC3567281 | biostudies-literature
Unknown Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in <i>GBA2</i> gene in a large consanguineous Saudi family.
| S-EPMC7859417 | biostudies-literature