Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
复制标题
DOI：
10.1007/s10038-004-0162-3
复制
发表时间：
2004-07-01
影响因子：
3.5
通讯作者：
Hayasaka, K
中科院分区：
文献类型：
--
作者：
Kijima, K;Numakura, C;Hayasaka, K
周蛋白（PRX）在周围神经的髓鞘形成中起着重要的作用。到目前为止，七个无义或移码PRX突变已报告在六个家系与Dejerine-Sottas神经病或严重Charcot-Marie-Tooth神经病（CMT）。我们在筛选66例日本脱髓鞘CMT患者中的3例患者中检测到PRX突变，这些患者的基因突变导致显性或X连锁脱髓鞘CMT。三个无关的患者是纯合子的一种新的R1070 X突变，并提出了早发性，但缓慢进行性远端运动和感觉神经病变。缺乏羧基末端酸性结构域的突变可能表现出功能丧失效应，并导致严重的脱髓鞘CMT。
Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the gene mutation causing dominant or X-linked demyelinating CMT. Three unrelated patients were homozygous for a novel R1070X mutation and presented early-onset but slowly progressive distal motor and sensory neuropathies. Mutations lacking the carboxyl-terminal acidic domain may show loss-of-function effects and cause severe demyelinating CMT.