CAJ | 학술논문

目的报道在1个细丝蛋白C(filamin C,FLNC)肌病家系中发现的新的插入缺失突变.方法该家系连续5代共有19例患者,临床和病理资料在前期研究中已经作为肌原纤维肌病进行了报道.现对包括先证者在内的3例患者、5名无症状家系成员和50名健康人进行FLNC基因的测序,利用质粒将FLNC基因的第18号外显子扩增产物进行克隆分离,然后进行电泳鉴定和直接测序.结果先证者的FLNC基因的第18号外显子存在18个正常碱基缺失,同时插入6个异常碱基,导致FLNC蛋白第7个免疫球蛋白样杆状重叠结构异常,继而致FLNC蛋白结构的失稳.家系中另2例患者存在同样的突变,而5名无症状家系成员和50名健康对照均正常.结论 FLNC肌病存在FLNC基因第18号外显子新的插入缺失突变,我们发现该病可以出现在德国之外的其他种族.
목적 보도재1개세사단백C(filamin C,FLNC)기병가계중발현적신적삽입결실돌변.방법 해가계련속5대공유19례환자,림상화병리자료재전기연구중이경작위기원섬유기병진행료보도.현대포괄선증자재내적3례환자、5명무증상가계성원화50명건강인진행FLNC기인적측서,이용질립장FLNC기인적제18호외현자확증산물진행극륭분리,연후진행전영감정화직접측서.결과 선증자적FLNC기인적제18호외현자존재18개정상감기결실,동시삽입6개이상감기,도치FLNC단백제7개면역구단백양간상중첩결구이상,계이치FLNC단백결구적실은.가계중령2례환자존재동양적돌변,이5명무증상가계성원화50명건강대조균정상.결론 FLNC기병존재FLNC기인제18호외현자신적삽입결실돌변,아문발현해병가이출현재덕국지외적기타충족.
Objective To report filaminopathy with novel insertion mutation in a Chinese family.Methods Total 19 patients from successive 5 generations involved in an autosomal dominant family. The detailed clinical manifestations had been described (Chinese Journal of Neurology, 2008, 41:751-755).The filamin C gene sequencing was performed in 3 patients, 5 family members without symptoms and 50 normal persons. The amplified fragments of the exon 18 in filamin C gene were cloned into pBluesripts vectors, then sequenced and identified with capillary electrophoresis. Results 18-nucleotide deletion and 6-nucleotide insertion were identified in the exon 18 of filamin C gene. The mutation caused the disturbance of the seventh immunoglobulin-like domain in filamin C, leading to the instability of dimmers of filamin C.Another 2 patients in the family had same mutation while 5 family members without symptoms and 50 normal controls were normal. Conclusion The novel nucleotide deletion-insertion in exon 18 of filamin C gene causes filaminopathy. This disease can appear in non-Nordic race.