IFT140基因纯合突变致Mainzer-Saldino综合征1例报告并文献复习  

IFT140 homozygous mutation causes Mainzer-Saldino syndrome:a case report with literature review

作　　者：魏海霞 孙良忠 林宏容 岳智慧[2] 李敏[1] 陈华木 SUN Liangzhong;LIN Hongrong;YUE zhihui;LI Min;CHEN Huamu(Department of Pediatrics,Nanfang Hospital of Southern Medical University,Guangzhou 510515,Guangdong,China;Department of Pediatrics,The First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,Guangdong,China).)

机构地区：[1]南方医科大学南方医院儿科,广东广州510515 [2]中山大学附属第一医院儿科,广东广州510080

出　　处：《临床儿科杂志》2020年第5期328-330,共3页Journal of Clinical Pediatrics

基　　金：国家自然科学基金面上项目(No.81670610,81470913)。

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。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.

关 键 词：Mainzer-Saldino综合征 肾单位肾痨 IFT140基因 突变 

分 类 号：R725.9[医药卫生—儿科]