NOVEL NONSENSE PROTEOLIPID PROTEIN GENE MUTATION AS A CAUSE OF X-LINKED SPASTIC PARAPLEGIA IN TWIN MALES

被引：40
作者：
OSAKA, H
KAWANISHI, C
INOUE, K
UESUGI, H
HIROSHI, K
NISHIYAMA, K
YAMADA, Y
SUZUKI, K
KIMURA, S
KOSAKA, K
机构：
[1] YOKOHAMA CITY UNIV,SCH MED,DEPT PEDIAT,YOKOHAMA,KANAGAWA,JAPAN
[2] YOKOHAMA CITY UNIV,SCH MED,DEPT PSYCHIAT,YOKOHAMA,KANAGAWA,JAPAN
[3] INT MED CTR JAPAN,DEPT NEUROL,TOKYO,JAPAN
[4] NATL TOKYO HOSP,DEPT NEUROL,KIYOSE,JAPAN
[5] UNIV TOKYO,FAC MED,INST BRAIN RES,DEPT NEUROL,TOKYO 113,JAPAN
来源：
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1995年 / 215卷 / 03期
关键词：
D O I：
10.1006/bbrc.1995.2539
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We report a third mutation of the proteolipid protein gene in male Japanese patients with X-linked spastic paraplegia. Although the proteolipid protein gene encodes two myelin proteins, proteolipid protein and DM 20, our W144X mutation resides in the latter part of exon 3 (exon 3B), which is spliced out in DM 20. This mutation may reserve the function of DM 20. Findings in our patients support that this form of spastic paraplesia is allelic to Pelizaeus-Merzbacher disease and that the mild clinical phenotype of this disorder may be related to a mutation within exon 3B of the PLP gene. (C) 1995 Academic Press, Inc.
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收藏
页码：835 / 841
页数：7
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