临床神经病学杂志
臨床神經病學雜誌
림상신경병학잡지
Journal of Clinical Neurology
2015年
5期
341-344
,共4页
王兴邦%李娜%赵新静%刘爱芬%单培彦%麻琳%江文静%吴倩倩
王興邦%李娜%趙新靜%劉愛芬%單培彥%痳琳%江文靜%吳倩倩
왕흥방%리나%조신정%류애분%단배언%마림%강문정%오천천
伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病%小血管病%NOTCH3%基因突变%高通量测序
伴皮質下梗死和白質腦病的常染色體顯性遺傳性腦動脈病%小血管病%NOTCH3%基因突變%高通量測序
반피질하경사화백질뇌병적상염색체현성유전성뇌동맥병%소혈관병%NOTCH3%기인돌변%고통량측서
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy%small vessel disease%NOTCH3%gene mutation%high-throughput sequencing
目的 分析伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病( CADASIL)一家系罕见的NOTCH3基因突变及诊断方法. 方法 回顾性分析1例CADASIL先证者的临床资料并进行家系调查. 结果 本例先证者主要表现为脑卒中反复发作及认知障碍. 先证者及其姐姐既往均采用Sanger法对NOTCH3基因突变热区进行基因测序,未检测到基因突变;而采用高通量测序法检测后发现NOTCH3基因第20号外显子存在一杂合错义突变( c.3226C>T). 家系中现存3例患者及其子女均采用高通量测序法检测出此突变基因. 家系调查显示为常染色体显性遗传. 结论 NOTCH3基因第20号外显子的杂合错义突变( c.3226C>T)为该家系的致病因素,高通量测序法能更全面发现罕见突变基因,减少漏诊.
目的 分析伴皮質下梗死和白質腦病的常染色體顯性遺傳性腦動脈病( CADASIL)一傢繫罕見的NOTCH3基因突變及診斷方法. 方法 迴顧性分析1例CADASIL先證者的臨床資料併進行傢繫調查. 結果 本例先證者主要錶現為腦卒中反複髮作及認知障礙. 先證者及其姐姐既往均採用Sanger法對NOTCH3基因突變熱區進行基因測序,未檢測到基因突變;而採用高通量測序法檢測後髮現NOTCH3基因第20號外顯子存在一雜閤錯義突變( c.3226C>T). 傢繫中現存3例患者及其子女均採用高通量測序法檢測齣此突變基因. 傢繫調查顯示為常染色體顯性遺傳. 結論 NOTCH3基因第20號外顯子的雜閤錯義突變( c.3226C>T)為該傢繫的緻病因素,高通量測序法能更全麵髮現罕見突變基因,減少漏診.
목적 분석반피질하경사화백질뇌병적상염색체현성유전성뇌동맥병( CADASIL)일가계한견적NOTCH3기인돌변급진단방법. 방법 회고성분석1례CADASIL선증자적림상자료병진행가계조사. 결과 본례선증자주요표현위뇌졸중반복발작급인지장애. 선증자급기저저기왕균채용Sanger법대NOTCH3기인돌변열구진행기인측서,미검측도기인돌변;이채용고통량측서법검측후발현NOTCH3기인제20호외현자존재일잡합착의돌변( c.3226C>T). 가계중현존3례환자급기자녀균채용고통량측서법검측출차돌변기인. 가계조사현시위상염색체현성유전. 결론 NOTCH3기인제20호외현자적잡합착의돌변( c.3226C>T)위해가계적치병인소,고통량측서법능경전면발현한견돌변기인,감소루진.
Objective To analyze the scarce NOTCH3 gene mutation and diagnostic methods of a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ( CADASIL) .Methods The clinical data of a CADASIL patient was retrospectively analyzed, and the family of this patient was investigated. Results The main clinical manifestations of this patient were repeated episodes of stroke and cognitive impairment. The NOTCT3 gene mutation of this patient and her sister were never found by Sanger sequencing at past.While high-throughput sequencing revealed that a heterozygous missense mutation in exon 20 of NOTCH3 gene( c.3226C>T) was found in the two patients.The 3 CADASIL patients in this family and their children were all carried this mutation gene.The pedigree investigation showed autosomal dominant inheritance.Conclusions The heterozygous missense mutation( c.3226C >T ) in exon 20 of NOTCH3 gene is the pathogenic factor for this family.High-throughput sequencing can find scarce mutant gene more comprehensively, and can reduce the missed diagnosis.
