Ikegami T, Ikeda H, Aoyama M, Matsuki T, Imota T, Fukuuchi Y, Amano T, Toyoshima I, Ishihara Y, Endoh H, Hayasaka K
Department of Pediatrics, Yamagata University School of Medicine, Japan.
Hum Genet. 1998 Mar;102(3):294-8. doi: 10.1007/s004390050694.
Peripheral myelin protein 22 (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 positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150. 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.
外周髓鞘蛋白22（PMP22）是一种膜糖蛋白，在周围神经系统紧密髓鞘的形成和/或维持中起重要作用。我们研究了两个患有德热里纳 - 索塔斯病的家系，并在PMP22基因中鉴定出两个新突变：一个是外显子4核苷酸位置426和427处的2碱基缺失突变（预计这会改变亮氨酸80处的阅读框，从而导致移码翻译），另一个是核苷酸位置636处的鸟嘌呤到胸腺嘧啶的替换，导致甘氨酸150被半胱氨酸取代。这两个突变都位于许多夏科 - 马里 - 图斯神经病、德热里纳 - 索塔斯病和遗传性压力易感性麻痹病例中报道的假定跨膜结构域。结果表明PMP22假定跨膜结构域在其功能中起重要作用。
