摘要
目的:了解家族烟雾病基因突变的特点。方法:对北京市大兴区人民医院2014年至2016年间发现的一家系烟雾病患者及其直系亲属进行基因检测，抽取先证者及其亲属外周静脉血，通过DNA外显子测序的方法进行基因测序，并进行头颅MRI+MRA检查。结果:基因测序结果表明先证者及其母亲、哥哥、表哥、姥姥、姨妈、表妹、舅舅、表侄为RNF213基因60号外显子的杂合变体，发生c.14399A＞G（p.N4800S）突变，先证者的父亲、女儿、侄子未发现该基因位点突变，影像学检查发现先证者及其哥哥、表哥患有烟雾病。结论:RNF213基因可能是烟雾病的罕见致病基因。
Abstract
Objective:To understand the characteristics of gene mutation of familial moyamoya disease.Methods:A family of moyamoya disease and their immediate relatives were subjected to gene testing between 2014 and 2016 at People's of Hospital of Bejing Daxing District. Peripheral venous blood of the proband and his relatives were collected. Gene sequencing was performed by DNA exon sequencing, and head MRI+MRA was performed.Results:Gene sequencing showed that the patient and his mother, brother, cousin, grandmother, aunt, cousin, uncle, and nephew carried c.14399A＞G (p.N4800S) heterozygous variants of RNF213 gene. The patient's father, daughter, and nephew did not have this RNF213 variant. Imaging examination found that the proband, his brother, and cousin had moyamoya disease.Conclusion:RNF213 may be a rare pathogenic gene of moyamoya disease in Han population.
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