中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2012年
21期
1463-1467
,共5页
占雅静%资晓宏%李琳%李小波%黄顺祥%厉兰%李锡癸%胡正茂%潘乾%夏昆%唐北沙%张如旭
佔雅靜%資曉宏%李琳%李小波%黃順祥%厲蘭%李錫癸%鬍正茂%潘乾%夏昆%唐北沙%張如旭
점아정%자효굉%리림%리소파%황순상%려란%리석계%호정무%반건%하곤%당북사%장여욱
腓骨肌萎缩症%CX32基因%突变分析%临床研究
腓骨肌萎縮癥%CX32基因%突變分析%臨床研究
비골기위축증%CX32기인%돌변분석%림상연구
Charcot-Marie-Tooth disease%Connexin 32%Mutation%Clinical research
目的 分析中国汉族腓骨肌萎缩症(CMT)家系CX32基因突变及相应临床特点.方法 应用多聚酶链反应结合DNA直接测序法对34个于2004-2011年由湘雅医院、湘雅三医院神经内科门诊和医学遗传学国家重点实验室遗传门诊收集无PMP22基因大片段重复突变,无男传男的腓骨肌萎缩症家系进行CX32基因突变检测,并分析6个CMTX1家系中11例患者的临床、电生理及神经病理特点.结果 发现6个CMTX1家系5个CX32基因突变:c.37G＞A、c.65G＞A、c.246C ＞G、c.256A＞G和c.533A＞G,其中c.246C ＞G、c.533A＞G为新发现的突变.CMTX1型临床特点为具有典型远端肌肉萎缩无力、腱反射减退或消失、弓形足等症状及体征,神经电生理示神经传导速度介于21.7 ～49.3 m/s,神经活检示髓鞘脱失、轴索变性均存在.结论 CX32基因突变频率在本研究CMT人群中约占9％,CMT家系具有男性患者较女性患者表型重、电生理和病理为中间型改变等特点,CX32基因突变分析有助于明确CMT患者基因诊断、开展遗传咨询和生育指导,以及进一步的发病机制研究.
目的 分析中國漢族腓骨肌萎縮癥(CMT)傢繫CX32基因突變及相應臨床特點.方法 應用多聚酶鏈反應結閤DNA直接測序法對34箇于2004-2011年由湘雅醫院、湘雅三醫院神經內科門診和醫學遺傳學國傢重點實驗室遺傳門診收集無PMP22基因大片段重複突變,無男傳男的腓骨肌萎縮癥傢繫進行CX32基因突變檢測,併分析6箇CMTX1傢繫中11例患者的臨床、電生理及神經病理特點.結果 髮現6箇CMTX1傢繫5箇CX32基因突變:c.37G＞A、c.65G＞A、c.246C ＞G、c.256A＞G和c.533A＞G,其中c.246C ＞G、c.533A＞G為新髮現的突變.CMTX1型臨床特點為具有典型遠耑肌肉萎縮無力、腱反射減退或消失、弓形足等癥狀及體徵,神經電生理示神經傳導速度介于21.7 ～49.3 m/s,神經活檢示髓鞘脫失、軸索變性均存在.結論 CX32基因突變頻率在本研究CMT人群中約佔9％,CMT傢繫具有男性患者較女性患者錶型重、電生理和病理為中間型改變等特點,CX32基因突變分析有助于明確CMT患者基因診斷、開展遺傳咨詢和生育指導,以及進一步的髮病機製研究.
목적 분석중국한족비골기위축증(CMT)가계CX32기인돌변급상응림상특점.방법 응용다취매련반응결합DNA직접측서법대34개우2004-2011년유상아의원、상아삼의원신경내과문진화의학유전학국가중점실험실유전문진수집무PMP22기인대편단중복돌변,무남전남적비골기위축증가계진행CX32기인돌변검측,병분석6개CMTX1가계중11례환자적림상、전생리급신경병리특점.결과 발현6개CMTX1가계5개CX32기인돌변:c.37G＞A、c.65G＞A、c.246C ＞G、c.256A＞G화c.533A＞G,기중c.246C ＞G、c.533A＞G위신발현적돌변.CMTX1형림상특점위구유전형원단기육위축무력、건반사감퇴혹소실、궁형족등증상급체정,신경전생리시신경전도속도개우21.7 ～49.3 m/s,신경활검시수초탈실、축색변성균존재.결론 CX32기인돌변빈솔재본연구CMT인군중약점9％,CMT가계구유남성환자교녀성환자표형중、전생리화병리위중간형개변등특점,CX32기인돌변분석유조우명학CMT환자기인진단、개전유전자순화생육지도,이급진일보적발병궤제연구.
Objective To analyze the mutation of CX32 gene and related clinical features in Chinese Han patients with Charcot-Marie-Tooth (CMT) disease.Methods Thirty-four CMT families,from 2004 to 2011 at Departments of Neurology,Xiangya Hospital,Third Xiangya Hospital and National Key Laboratory of Medical Genetics,were selected for CX32 mutation screening after the exclusion of the PMP22 duplication and male-to-male transmission.Mutation analysis was carried out by polymerase chain reaction (PCR) plus direct sequencing.Analyses of clinical,electrophysiological and pathological features in 11 patients from 6 CMTX1 families were performed by 2 neurologists.Results Five CX32 gene mutations were detected in 6 CMT families:c.37G ＞ A,c.65G ＞ A,c.246C ＞ G,c.256A ＞ G and c.533A ＞ G.Among them,c.246C ＞ G and c.533A ＞ G were firstly reported.The clinical manifestations included progressive distal muscle atrophy and weakness,areflexia,sensory abnormalities and pes vacus. Nerve conduction velocity ranged from 21.7 to 49.3 m/s.Both demyelination and axonal degeneration were detected in nerve biopsy.Conclusions CMT1X has a frequency of around 9％ in our study.The male patients tend to have more serious clinical features and their electrophysiological and pathological changes are intermediate.CX32 mutation analysis helps to confirm the genetic diagnosis of CMT so as to provide genetic counseling and reproductive guidance and elucidate its pathogenesis.
