Casasnovas C, Banchs I, Corral J, Martínez-Matos J A, Volpini V
Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge-IDIBELL, Feixa Llarga s/n, L'Hospitalet de Llobregat, Barcelona, Spain.
Clin Genet. 2006 Dec;70(6):516-23. doi: 10.1111/j.1399-0004.2006.00724.x.
From 1995 to 2004, 979 families with hereditary peripheral neuropathy were referred to the Genetic Diagnosis Center. Using single-strand conformation analysis (SSCA), the connexin 32 gene was analysed in all the patients from 498 families with sporadic or dominant inheritance with no male-to-male transmission and absence of the 17p2 duplication or deletion. Affected males had pes cavus, distal leg weakness, muscular distal atrophy, areflexia and distal sensory loss. The 106 families in which SSCA revealed abnormal migration electrophoresis were directly sequenced. We found 34 families (59 patients) with mutations in connexin 32 gene. In electrophysiological studies, 58.8% families presented slow and 14.7% intermediate nerve conduction velocities. Molecular findings revealed that codon 164 (29.4 +/- 15.3%) and the second extracellular (EC2) domain (44.1 +/- 16.6%) were the most frequently affected codon and domain of the connexin 32. Six novel mutations, Leu39fs, Glu47Gly, His153fs, Cys179Tyr, Cys201Phe and Ser211fs, were found in our study.
1995年至2004年期间，979个患有遗传性周围神经病的家庭被转诊至基因诊断中心。运用单链构象分析（SSCA），对498个具有散发或显性遗传且无男性对男性传递、不存在17p2重复或缺失的家庭中的所有患者进行了连接蛋白32基因分析。患病男性有高弓足、小腿远端无力、肌肉远端萎缩、无反射和远端感觉丧失。对SSCA显示迁移电泳异常的106个家庭直接进行测序。我们发现34个家庭（59例患者）存在连接蛋白32基因突变。在电生理研究中，58.8%的家庭呈现神经传导速度减慢，14.7%的家庭呈现神经传导速度中等。分子研究结果显示，密码子164（29.4 +/- 15.3%）和第二个细胞外（EC2）结构域（44.1 +/- 16.6%）是连接蛋白32最常受影响的密码子和结构域。在我们的研究中发现了6种新的突变，即Leu39fs、Glu47Gly、His153fs、Cys179Tyr、Cys201Phe和Ser211fs。
