目的　分析IFT140基因突变致Mainzer-Saldino综合征（MSS）的临床与基因突变特点。方法　总结1例临床 诊断MSS患儿的临床资料，分析患儿及家系成员的全外显子测序与生物信息学检测结果。结果　女性患儿， 3岁时出现弱 视， 5岁8月龄因贫血就诊发现已进入终末期肾病，视网膜退行性病变，指骨骨骺呈锥状改变。基因检测显示IFT140纯合 突变（c.634G>A，p.G212R），分别来源于父母。结论　MSS有特征性临床表现，基因检测有助于明确诊断。

Objective　Mainzer-Saldino syndrome (MSS) is a rare nephronophthisis associated ciliopathy with skeletal dysplasia. This study is aim to summarize the clinical features and genetic analysis of a child with IFT140 mutation-associated MSS. Related literatures were reviewed. Methods　Clinical data and blood sample of the proband were collected, and Whole-exome sequencing and bioinformatics analysis were performed. Results　The child was a 5-year-old female, and she was firstly noticed with amblyopia at 3 years old. At the age of 5 years and 8 months, she was found to have anemia and was on the end stage renal disease. Retinal degeneration and cone-shape phalanges were revealed. Genetic testing identified a homozygous mutation of c.634G>A (p.G212R) in IFT140, which was predicted to be pathogenic. The mutations were inherited from her parents. Conclusion　MSS has characteristic clinical manifestations, and genetic testing is helpful to confirm the diagnosis of MSS.