伴有脑干听觉诱发电位异常的腓骨肌萎缩症发现连接蛋白32基因新突变

目的：报告一个脑干听觉诱发电位有异常改变的腓骨肌萎缩症（Charcot-Marie-Tooth disease,CMT）家系，并探讨与连接蛋白32(connexin32，Cx32)基因突变的关系。方法：对整个家系进行临床检查，对先证者进行肌电图及脑干听觉诱发电位检查，并应用聚合酶链式反应-单链构象多态（polymerase chain reaction -single strand conformation polymouphism，PCR-SSCP）技术结合DNA序列分析方法检测了先证者、家系内8人及家系外50名无血缘关系的正常人。结果：先证者肌电图检查示神经传导速度明显减慢，脑干听觉诱发电位示中枢传导延长，该家系中先证者及另3人均出现异常SSCP条带，经测序证实为392T→C(Leu131Pro)突变。结论：Leu131Pro是未报道过的突变，腓骨肌萎缩症患者可以出现脑干听觉诿发电位异常。

A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing

Objective To report a Chinese Charcot Marie Tooth disease (CMT) family whose proband had abnormal brainstem auditory evoked potentials (BAEPs) and to study its relationship with connexin 32 (Cx32) gene mutation. Methods All family members were studied through clinical examinations, out of them, the proband was subjected to electromyography and BAEPs examination. Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR SSCP) combined with DNA direct sequencing in the proband, 8 family members and 50 unrelated normal individuals. Results The proband had highly decreased nerve conduction velocities and delayed BAEPs. Leu131Pro mutation was found in the proband and 3 family members, not found in 50 normal controls. Conclusion This mutation has not been reported previously. Central nervous system can be affected in CMT patients.