目的　探讨Alport综合征的临床特点及其相关致病基因。方法　回顾分析1个Alport综合征家系的临床资料。 结果　先证者，男，11岁8个月，COL4A5基因中鉴定出TTCT插入突变（c.41_42 dup TCTT），该插入突变引起了移码突变。 使用Integrative Genomics Viewer软件进行分析，该移码突变导致自之后的第13个氨基酸残基发生改变，且在第40个氨基 酸残基处出现终止密码子，导致蛋白表达提前终止。患儿母亲和外祖母均携带该变异，分别在35岁和34岁时达到终末期 肾病，且都有听力受损，但未发现眼部异常。家系分析表明该变异与该家系患病成员存在共分离关联。结论　基因检测有 助于Alport综合征确诊，该家系扩展了Alport综合征的致病变异谱。

Objective　To investigate the clinical characteristics and related pathogenic genes of Alport syndrome. Methods　The clinical data of an Alport syndrome family were retrospectively analysed. Results　A TTCT insertion mutation (c.41_42 dup TCTT) lead to reading frame disturbance was identified in the COL4A5 gene of the proband, an 11 years and 8 months old male. Integrative Genomics Viewer software found that the frameshift mutation lead to the preterm stop codon at 40th amino acid residue and termination of protein translation. The proband's mother (II5) and grandmother (I2) both carried the mutant gene and had end-stage renal disease at the age of 35 and 34, respectively. Both of them had hearing impairment with no ocular abnormalities, which showed a co-segregation association with the affected members of the families. Conclusions　This study provides evidence of molecular genetics for the clinical diagnosis of this family and expands the mutation spectrum of COL4A5 gene.