A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
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DOI：
10.1186/1471-2350-9-28
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发表时间：
2008-04-14
影响因子：
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通讯作者：
Christodoulou, Kyproula
中科院分区：
文献类型：
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作者：
Nicolaou, Paschalis;Georghiou, Anthi;Christodoulou, Kyproula
背景资料：Senataxin（染色体9q34）最近被鉴定为常染色体隐性形式的共济失调（ARCA）的致病基因，称为共济失调伴眼用失用症2型（AOA 2），其特征在于全身性不协调、小脑萎缩、周围神经病、“眼用失用症”和甲胎蛋白（AFP）增加。在这里，我们报告了一个新的Senataxin突变在塞浦路斯ARCA family.Methods：我们研究了几个塞浦路斯常染色体隐性小脑性共济失调（ARCA）的家庭连锁已知的ARCA基因位点。我们将一个家系（909例）与染色体9q34上的SETX位点连锁，并通过直接测序法对先证者进行突变筛查。SETX基因外显子II中的5308_5311delGAGA突变。该突变尚未检测到204控制染色体从塞浦路斯人口，其余的塞浦路斯ARCA家庭和37塞浦路斯散发性小脑共济失调patients.Conclusion：我们确定了一种新的SETX纯合子c。5308_5311delGAGA突变与ARCA共分离，伴有小脑萎缩和AFP升高。
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 II 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.