学术探索
学术期刊
新闻热点
数据分析
智能评审

An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP

被引：14
作者：
Bellone, E
Balestra, P
Ribizzi, G
Schenone, A
Zocchi, G
Di Maria, E
Ajmar, F
Mandich, P
机构：
[1] Univ Genoa, DIMI, Med Genet Sect, Dept Neurosci Ophthalmol & Genet, I-16132 Genoa, Italy
[2] San Martino Hosp, Div Neurol, Genoa, Italy
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2006年 / 77卷 / 04期
关键词：
D O I：
10.1136/jnnp.2005.075242
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Hereditary neuropathy with liability to pressure palsies ( HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation ( c. 179+1 GRC) is reported in an HNPP family. By reverse transcriptase-polymerase chain reaction experiments, this mutation was shown to cause the synthesis of an abnormal mRNA in which a premature stop codon probably produces a truncated nonfunctional protein.
引用
收藏
页码：538 / 540
页数：3
相关论文
共 7 条
[1]   Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies [J].
Bort, S ;
Nelis, E ;
Timmerman, V ;
Sevilla, T ;
CruzMartinez, A ;
Martinez, F ;
Millan, JM ;
Arpa, J ;
Vilchez, JJ ;
Prieto, F ;
Van Broeckhoven, C ;
Palau, F .
HUMAN GENETICS, 1997, 99 (06) :746-754
[2]  
LORENZETTI D, 1995, AM J HUM GENET, V56, P91
[3]  
Mandich P, 1998, HUM MUTAT, pS268
[4]   A novel 3′-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies [J].
Meuleman, J ;
Pou-Serradell, A ;
Löfgren, A ;
Ceuterick, C ;
Martin, JJ ;
Timmerman, V ;
Van Broeckhoven, C ;
De Jonghe, P .
NEUROMUSCULAR DISORDERS, 2001, 11 (04) :400-403
[5]   CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - ASSOCIATION WITH A SPONTANEOUS POINT MUTATION IN THE PMP22 GENE [J].
ROA, BB ;
GARCIA, CA ;
SUTER, U ;
KULPA, DA ;
WISE, CA ;
MUELLER, J ;
WELCHER, AA ;
SNIPES, GJ ;
SHOOTER, EM ;
PATEL, PI ;
LUPSKI, JR .
NEW ENGLAND JOURNAL OF MEDICINE, 1993, 329 (02) :96-101
[6]   Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins [J].
Sanders, CR ;
Ismail-Beigi, F ;
McEnery, MW .
BIOCHEMISTRY, 2001, 40 (32) :9453-9459
[7]   Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies [J].
Schenone, A ;
Nobbio, L ;
Mandich, P ;
Bellone, E ;
Abbruzzese, M ;
Aymar, F ;
Mancardi, GL ;
Windebank, AJ .
NEUROLOGY, 1997, 48 (02) :445-449
1