目的:鉴定一个中国Joubert综合征家系的致病基因及位点.方法:对该Joubert综合征家系的先证者进行目标外显子组捕获测序,通过生物信息学分析找到候选的致病基因及位点,利用聚合酶链式反应(PCR)和Sanger测序进行验证.结果:在先证者的9号染色体INPP5E基因上存在2个杂合变异位点,分别为c.1524C＞G,p.Asp508Glu以及c.1688G＞A,p.Arg563His.这两个位点在家系中符合遗传共分离规律.结论:目标区域捕获测序结合Sanger测序发现INPP5E基因的c.1524C＞G以及c.1688G＞A位点为引起该Joubert综合征家系临床病变的变异位点,这是国内首次报道的由INPP5E基因突变导致的Joubert综合征病例,且c.1524C＞G为首次发现的新致病位点.“,”Objective:To identify the genetic mutations and its mutation site of a Chinese family with Joubert syndrome.Methods:Target exome sequencing was applied to examine the DNA sample of a male patient in the Chinese family with Joubert syndrome.Candidate variants were selected by bioinformatics analysis.Polymerase chain reaction followed by Sanger sequencing was used to verify the candidate variant.Results:The chromosome 9 INPP5E had two hybrid mutation site,which were c.1524C＞G,p.Asp508Glu and c.1688G＞A,p.Arg563His.The two mutation sites of the family members were conform to the genetic co-segregated rule.Compound heterozygous variants were identified in INPP5E.Conclusion:Target exome sequencing combined with Sanger sequencing find site of c.1524C＞G and c.1688G＞A of INPP5E gene cause Joubert syndrome.This is the first report that the case of Chinese Joubert syndrome caused by INPP5E gene mutation,c.1524C＞G is a novel mutation site for disease.