ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies
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DOI：
10.1007/s00415-011-6276-6
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发表时间：
2012-05-01
影响因子：
6
通讯作者：
Tournev, Ivailo
中科院分区：
文献类型：
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作者：
Chamova, Teodora;Florez, Laura;Tournev, Ivailo
最近的一份报告（Vermeer et al. in Am J Hum Genet 87:813- 819,2010）首次发现ANO10基因与常染色体隐性小脑共济失调的遗传基础有关。所描述的三个家族之一是来自塞尔维亚的罗姆人/吉普赛人，其中受影响的个体是截断p.Leu384fs突变的纯合子，并表现出明显的表型特征（Vermeer et al. in Am J Hum Genet 87:813-819, 2010）。基于罗姆人/吉普赛人的历史和群体遗传学，我们假设p.l u384fs可能是该人群中的另一个创始突变，其在大量遗传同质患者中的鉴定将有助于确定该疾病的表型谱。在这里，我们描述了来自邻国保加利亚的其他患者，概述了ano10 -共济失调的不变特征，并证实了整体智力下降是由Anactomin 10完全缺陷引起的表型的一部分。
A recent report (Vermeer et al. in Am J Hum Genet 87:813-819, 2010) implicated for the first time the ANO10 gene in the genetic basis of autosomal recessive cerebellar ataxias. One of the three described families were Roma/Gypsies from Serbia, where the affected individuals were homozygous for the truncating p.Leu384fs mutation and displayed distinct phenotypic features (Vermeer et al. in Am J Hum Genet 87:813-819, 2010). Based on the history and population genetics of the Roma/Gypsies, we hypothesised that p.Leu384fs could be another founder mutation in this population, whose identification in a larger number of genetically homogeneous patients will contribute to defining the phenotypic spectrum of the disorder. Here, we describe additional patients from neighbouring Bulgaria, outlining invariable ANO10-ataxia features and confirming global intellectual decline as part of the phenotype resulting from complete Anactomin 10 deficit.