中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2009年
2期
115-118
,共4页
陈俐%石奕武%于美娟%邓维意%刘晓蓉%高玫梅%常好会%龙跃生%易咏虹%廖卫平
陳俐%石奕武%于美娟%鄧維意%劉曉蓉%高玫梅%常好會%龍躍生%易詠虹%廖衛平
진리%석혁무%우미연%산유의%류효용%고매매%상호회%룡약생%역영홍%료위평
癫(癎)%肌阵挛性%神经组织蛋白质类%钠通道%色谱法%高压液相%突变
癲(癎)%肌陣攣性%神經組織蛋白質類%鈉通道%色譜法%高壓液相%突變
전(간)%기진련성%신경조직단백질류%납통도%색보법%고압액상%돌변
Epilepsies,myoclonic%Nerve tissue proteins%Sodium channels%Chromatography,high pressure liquid%Mutation
目的 筛查一对同卵双胞胎界限型婴儿重症肌阵挛癫(癎)(borderland severe myoclonic epilepsy of infancy,SMEB)患儿的钠通道α1(sodium channel α1-subunit,SCN1A)基因并探讨其临床特性.方法 总结这对同卵双生子患者的临床特点,应用变性高效液相色谱(denaturing high performance liquid chromatography,DHPLC)技术筛查SCN1A基因全部26个外显子,对发现有异常洗脱峰者再进行直接测序.结果 这对孪生姐妹患者均具有典型SMEB的临床特点,她们在SCN1A基因第26号外显子被发现有相同的杂合突变(c.5348C>T),并导致编码的氨基酸改变(A1783E),为国际上首次发现该位点突变.结论 临床表型相似的SMEB同卵双胞胎存在相同位点的SCN1A基因突变,证实SMEB与婴儿重症肌阵挛癫(癎)同样是基因异常引起的疾病,而且基因与临床表型密切相关.
目的 篩查一對同卵雙胞胎界限型嬰兒重癥肌陣攣癲(癎)(borderland severe myoclonic epilepsy of infancy,SMEB)患兒的鈉通道α1(sodium channel α1-subunit,SCN1A)基因併探討其臨床特性.方法 總結這對同卵雙生子患者的臨床特點,應用變性高效液相色譜(denaturing high performance liquid chromatography,DHPLC)技術篩查SCN1A基因全部26箇外顯子,對髮現有異常洗脫峰者再進行直接測序.結果 這對孿生姐妹患者均具有典型SMEB的臨床特點,她們在SCN1A基因第26號外顯子被髮現有相同的雜閤突變(c.5348C>T),併導緻編碼的氨基痠改變(A1783E),為國際上首次髮現該位點突變.結論 臨床錶型相似的SMEB同卵雙胞胎存在相同位點的SCN1A基因突變,證實SMEB與嬰兒重癥肌陣攣癲(癎)同樣是基因異常引起的疾病,而且基因與臨床錶型密切相關.
목적 사사일대동란쌍포태계한형영인중증기진련전(간)(borderland severe myoclonic epilepsy of infancy,SMEB)환인적납통도α1(sodium channel α1-subunit,SCN1A)기인병탐토기림상특성.방법 총결저대동란쌍생자환자적림상특점,응용변성고효액상색보(denaturing high performance liquid chromatography,DHPLC)기술사사SCN1A기인전부26개외현자,대발현유이상세탈봉자재진행직접측서.결과 저대련생저매환자균구유전형SMEB적림상특점,저문재SCN1A기인제26호외현자피발현유상동적잡합돌변(c.5348C>T),병도치편마적안기산개변(A1783E),위국제상수차발현해위점돌변.결론 림상표형상사적SMEB동란쌍포태존재상동위점적SCN1A기인돌변,증실SMEB여영인중증기진련전(간)동양시기인이상인기적질병,이차기인여림상표형밀절상관.
Objective To study the sodium channel α1-subunit (SCN1A) gene in a pair of monozygotic twins with borderland severe myoclonic epilepsy in infancy (SMEB) and its characteristic of clinical manifestations. Methods The clinical features of 2 monozygotic twins were summarized. All 26 exons of SCNIA genes were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was performed on those with abnormal elution peak. Results The proband and her sister showed typical clinical features of SMEB. The same heterozygous mutations on exon 26 which caused the related amino acid change were found among them (c. 5348C > T, A1783E). Conclusion Monozygotic twins with similar clinical phenotype of SMEB have same SCN1A gene mutation.
