腓骨肌萎缩症X1型1个家系的临床、电生理和Connexin32基因突变分析

目的观察腓骨肌萎缩症(CMT)X1型的临床、电生理特点和Connexin32(Cx32)基因突变情况.方法对1个无基因重复的临床可疑的CMTX1家系中的3例患者进行详尽的临床和神经电生理检查,并应用变性高效液相色谱结合混和样品池法和DNA序列测定对包括先证者在内的3名成员的Cx32基因进行突变检测.结果 该家系中的病人发生了Gly12Ser,50名正常人中未发现上述改变,提示该突变为致病性突变.家系中男性病人临床症状重于女性;电生理特点为脱髓鞘改变;同一病人的不同神经间存在异质性.结论 Gly12Ser突变可能导致原发性脱髓鞘性神经病,不伴有特殊的临床表现.

Clinical, electrophysiological and connexin 32 gene mutation analysis with X-linked dominant Charcot-Marie Tooth disease

Objective To study the clinical and electrophysiology and connexin32 ( Cx32) gene mutation with X-linked dominant Charcot - Marie - Tooth ( CMTX1) disease. Methods Three patients in a clinical possible X-linked dominant Charcot-Marie-Tooth disease ( CMTX1) without gene duplication family underwent clinical and electrophysiological studies in detail. And mutation analysis of Cx32 gene was performed by denaturing high-performance liquid chromatography (DHPLC) combined with DNA pooling and DNA sequencing. Results Glyl2Ser was found in this family, but not in 50 normal controls out of the family, which suggests Glyl2Ser is the pathogenic mutation in this family. CMTX males are more severe than females in clinically. All patents exhibited some electrophysiological characteristics of demyelination. There is heterogeneity of nerve conductions between nerves. Conclusions Glyl2Ser mutation may cause a primary demyelinating neuropathy that is not associated with a specific clinical phenotype.