Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease |
| |
Authors: | Tohru Ikegami Hiroyuki Ikeda Masahiro Aoyama Takasumi Matsuki Tsuyoshi Imota Yasuo Fukuuchi Takahiro Amano Itaru Toyoshima Yoshihito Ishihara Hiroyuki Endoh K Hayasaka |
| |
Institution: | (1) Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990–23, Japan Fax: +81-236-28-5332, JP;(2) Department of Forensic Medicine, Fukui Medical University, Fukui, Japan, JP;(3) Department of Internal Medicine, Akita City Hospital, Akita, Japan, JP;(4) Department of Neurology, Keio University School of Medicine, Keio, Japan, JP;(5) Department of Internal Medicine, Akita University School of Medicine, Akita, Japan, JP;(6) Taihei Ryoikuen Hospital for Disabled Children, Akita, Japan, JP;(7) Akita-ken Shouni Ryouiku Center, Akita, Japan, JP |
| |
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.
Received: 1 September 1997 / Accepted: 4 November 1997 |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|