Connexin 32 promoter P2 mutations:: A mechanism of peripheral nerve dysfunction

被引：45
作者：
Houlden, H
Girard, M
Cockerell, C
Ingram, D
Wood, NW
Goossens, M
Walker, RWH
Reilly, MM
机构：
[1] UCL Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England
[2] Neurol Inst, Dept Mol Neurosci, London WC1N 3BG, England
[3] St Bartholomews Hosp, London, England
[4] Royal London Hosp, London E1 1BB, England
[5] Princess Alexandra Hosp, Harlow, Essex, England
[6] Hop Henri Mondor, U466, INSERM, F-94010 Creteil, France
[7] UCL Natl Hosp Neurol & Neurosurg, Ctr Neuromuscular Dis, London WC1N 3BG, England
来源：
ANNALS OF NEUROLOGY | 2004年 / 56卷 / 05期
关键词：
D O I：
10.1002/ana.20267
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp. This mutation was in a highly conserved SOX10 binding site. Functional studies were conducted on the Cx32 promoter that showed that this mutation reduced the activity of the Cx32 promoter and the affinity for SOX10 binding. These data suggest that interaction between the Cx32 P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve dysfunction.
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页码：730 / 734
页数：5
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