关键词: Mainzer-Saldino综合征；　肾单位肾痨；　IFT140基因；　突变

Abstract: 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.

Key words: Mainzer-Saldino syndrome;　nephronophthisis;　IFT140 gene;　mutation