PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
复制标题
DOI：
10.1371/journal.pone.0038543
复制
发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Soong BW
中科院分区：
文献类型：
--
作者：
Lee YC;Lee MJ;Yu HY;Chen C;Hsu CH;Lin KP;Liao KK;Chang MH;Liao YC;Soong BW
PRRT2基因突变最近在家族性阵发性运动障碍伴婴儿惊厥（PKD/IC）患者和来自几个民族的散发性PKD/IC患者中被发现。为了扩展这些最近的遗传报告，我们研究了台湾PKD/IC患者队列中PRRT2突变的频率和特征。我们在28名台湾PKD/IC患者中筛选了PRRT2所有3个编码外显子的突变。其中家族性PKD/IC 13例，明显散发15例。13例患者共发现7种不同的突变，包括8例家族性病例和5例明显散发病例。500名健康对照者没有出现这种突变。其中四个突变是新发现的。一名患者有错义突变，所有其他患者携带PRRT2突变，推定导致蛋白质截断。单倍型分析显示，7例PRRT2 p.R217Pfs*8突变患者中有5例具有与该突变相关的相同单倍型。在台湾队列中，PRRT2突变占家族性PKD/IC的61.5%（13人中有8人）和明显散发的PKD/IC的33.3%（15人中有5人）。台湾大多数PRRT2 p.R217Pfs*8突变患者可能来自一个共同的祖先。本研究扩大了PKD/IC相关PRRT2突变的谱，强调了PRRT2突变在PKD/IC中的致病作用，并提示了特发性PKD的遗传异质性。
Mutations in the PRRT2 gene have recently been identified in patients with familial paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and patients with sporadic PKD/IC from several ethnic groups. To extend these recent genetic reports, we investigated the frequency and identities of PRRT2 mutations in a cohort of Taiwanese patients with PKD/IC. We screened all 3 coding exons of PRRT2 for mutations in 28 Taiwanese patients with PKD/IC. Among them, 13 had familial PKD/IC and 15 were apparently sporadic cases. In total, 7 disparate mutations were identified in 13 patients, including 8 familial cases and 5 apparently sporadic cases. The mutations were not present in 500 healthy controls. Four mutations were novel. One patient had a missense mutation and all other patients carried PRRT2 mutations putatively resulting in a protein truncation. Haplotype analysis revealed that 5 of the 7 patients with the PRRT2 p.R217Pfs*8 mutation shared the same haplotype linked to the mutation. PRRT2 mutations account for 61.5% (8 out of 13) of familial PKD/IC and 33.3% (5 out of 15) of apparently sporadic PKD/IC in the Taiwanese cohort. Most patients with the PRRT2 p.R217Pfs*8 mutation in Taiwan likely descend from a single common ancestor. This study expands the spectrum of PKD/IC-associated PRRT2 mutations, highlights the pathogenic role of PRRT2 mutations in PKD/IC, and suggests genetic heterogeneity within idiopathic PKD.
登录
查看更多内容
影响因子：
30.8
作者：
Chen, Wan-Jin;Lin, Yu;Wu, Zhi-Ying
通讯作者：
Wu, Zhi-Ying
PRRT2 突变导致阵发性运动障碍，临床表达存在显着差异
影响因子：
4
作者：
Liu, Qing;Qi, Zhan;Zhang, Xue
通讯作者：
Zhang, Xue
影响因子：
5.8
作者：
Larkin, M. A.;Blackshields, G.;Higgins, D. G.
通讯作者：
Higgins, D. G.
影响因子：
5.8
作者：
Ferrer-Costa, C;Gelpí, JL;Orozco, M
通讯作者：
Orozco, M
PRRT2 鉴定为阵发性运动诱发性运动障碍的致病基因
DOI：
10.1093/brain/awr289
发表时间：
2011-12
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Wang JL;Cao L;Li XH;Hu ZM;Li JD;Zhang JG;Liang Y;San-A;Li N;Chen SQ;Guo JF;Jiang H;Shen L;Zheng L;Mao X;Yan WQ;Zhou Y;Shi YT;Ai SX;Dai MZ;Zhang P;Xia K;Chen SD;Tang BS
通讯作者：
Tang BS