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
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.
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页码:538 / 540
页数:3
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