Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease
Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease
复制标题
两个 Dejerine-Sottas 病家系外周髓磷脂蛋白 22 基因的新突变
作者：
T. Ikegami;H. Ikeda;M. Aoyama;T. Matsuki;T. Imota;Y. Fukuuchi;T. Amano;I. Toyoshima;Yoshihito Ishihara;Hiroyuki Endoh;K. Hayasaka
外周髓鞘蛋白22 （PMP22）是一种膜糖蛋白，在周围神经系统致密髓鞘的形成和/或维持中起重要作用。我们研究了两个患有Dejerine-Sottas病的家系，并在PMP22基因上发现了两个新的突变：一个是外显子4的核苷酸位置426和427的2 bp缺失突变（预计这将改变leucine80的阅读框，从而导致框移位翻译），另一个是核苷酸位置636的鸟嘌呤取代胸腺嘧啶，导致半胱氨酸取代甘氨酸150。这两种突变都位于假定的跨膜结构域，在许多charco - marie - tooth神经病变、Dejerine-Sottas病和遗传性神经病变中都有报道，这些神经病变容易导致压力性麻痹。结果表明PMP22的跨膜结构域在其功能中起重要作用。
Abstract Peripheral myelin protein22 (PMP22), a membrane glycoprotein, plays a significant role in the formation and/or maintenance of compact myelin in the peripheral nervous system. We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions426 and 427 of exon4 (this is predicted to alter the reading frame at leucine80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position636 leading to a cysteine substitution for glycine150. Both mutations were located in the putative transmembrane domains reported in many cases of Charcot-Marie-Tooth neuropathy, Dejerine-Sottas disease, and hereditary neuropathy with liability to pressure palsies. The results suggest an important role for the putative transmembrane domains of PMP22 in its function.
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影响因子：
9.8
作者：
T. Bird;J. Ott;E. Giblett
通讯作者：
T. Bird;J. Ott;E. Giblett
I 型夏科-马里-图思病（I 型遗传性运动和感觉神经病）的遗传连锁和异质性。
影响因子：
9.8
作者：
Chance,PF;Bird,TD;O'Connell,P;Lipe,H;Lalouel,JM;Leppert,M
通讯作者：
Leppert,M
影响因子：
56.9
作者：
BERGOFFEN, J;SCHERER, SS;FISCHBECK, KH
通讯作者：
FISCHBECK, KH
trembler-J 小鼠 22 kDa 外周髓磷脂蛋白的假定第一跨膜结构域中亮氨酸到脯氨酸的突变。
DOI：
10.1073/pnas.89.10.4382
发表时间：
1992
影响因子：
11.1
作者：
Suter,U;Moskow,JJ;Welcher,AA;Snipes,GJ;Kosaras,B;Sidman,RL;Buchberg,AM;Shooter,EM
通讯作者：
Shooter,EM