【摘要】 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。更多还原

【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.更多还原