Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome

被引：16

作者：

Fabrizi, GM ^{[1
]}

Cavallaro, T ^{[1
]}

Morbin, M ^{[1
]}

Simonati, A ^{[1
]}

Taioli, F ^{[1
]}

Rizzuto, N ^{[1
]}

机构：

[1] Univ Verona, Policlin Borgo Roma, Dept Neurol & Visual Sci, Sect Clin Neurol, I-37134 Verona, Italy

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 1999年 / 66卷 / 03期

关键词：

Dejerine-Sottas syndrome; P-0; myelin;

D O I：

10.1136/jnnp.66.3.386

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A patient is described with a Dejerine-Sottas syndrome caused by a novel heterozygous Cys (98) Tyr mutation in the extracellular domain of the major peripheral myelin protein zero (P(0)ex). Homotypical interactions between P(0)ex tetramers of apposed extracellular faces of the Schwann cell membrane play a crucial part in myelin compaction. The amino acid change disrupts a unique disulphide bond that stabilises the immunoglobulin-like structure of P(0)ex and it is predicted to cause severe dehypomyelination through dominant negative effects on the wild type protein.

引用

页码：386 / 389

页数：4

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