EPG5基因变异致Vici综合征一家系分析  

Analysis of a family with Vici syndrome caused by EPG5 gene mutation

作　　者：辛世杰 李伟[1] XIN Shijie;LI Wei(Department of Pediatrics,First People's Hospital of Shangqiu,Shangqiu 476000,China)

机构地区：[1]商丘市第一人民医院儿科,河南商丘476000

出　　处：《中国中西医结合儿科学》2023年第1期88-91,共4页Chinese Pediatrics of Integrated Traditional and Western Medicine

摘　　要：目的探讨EPG5基因变异致Vici综合征临床特征和基因变异特点,为遗传咨询及诊断提供依据。方法收集临床资料,提取父母、患儿外周血样本DNA,患儿行全外显子测序检测可疑基因变异,对可疑变异再进行Sanger测序验证,进行生物信息学预测和解析。结果5个月患儿以“生长发育迟缓伴喂养困难4月余”入院,临床表现为皮肤、毛发颜色浅淡,小头畸形,哭声不连续,无注视,双眼球可见水平震颤,四肢肌张力正常,肌力3级。头颅MRI示胼胝体缺如。全外显子测序示18号染色体EPG5,C.1924(exon9)C>T,p.R642X,1938(p.Arg642stop.1938);C.5704(exon33)_C.5705(exon33)insT,P.Y1902 L.fs*2(p.Tyr1902Leu.fs*2)复合杂合突变,父亲EPG5,C.1924(exon9)C>T,p.R642X,1938(p.Arg642stop.1938);母亲C.5704(exon33)_C.5705(exon33)insT,P.Y1902 L.fs*2(p.Tyr1902Leu.fs*2)。结论患儿C.1924(exon9)C>T,p.R642X,1938(p.Arg642stop.1938)为未报道变异,来自父亲,C.5704(exon33)_C.5705(exon33)insT,P.Y1902 L.fs*2(p.Tyr1902Leu.fs*2)来自母亲,丰富了EPG5基因变异谱,为产前诊断及再生育提供指导。Objective To explore the clinical features and gene mutation characteristics of Vici syndrome caused by EPG5 gene mutation,and provide the basis for genetic counseling and diagnosis.Methods Clinical data were collected,and DNA from peripheral blood samples of parents and the child was extracted.The child underwent whole-exome sequencing to detect suspicious gene mutations,and then Sanger sequencing was performed to verify the suspicious mutations,and bioinformatics prediction and analysis were performed.Results The 5-month-old child was admitted to the hospital with complaint of"growth retardation and feeding difficulties for more than 4 months",the clinical manifestations were light color of skin and hair,microcephaly,discontinuous crying,no gaze,visible horizontal tremor in both eyes,and normal muscle tension in the limbs.Muscle strength was grade 3.Brain MRI showed an absence of the corpus callosum.Whole exon sequencing revealed EPG5 mutation on chromosome18,C.1924(exon9)C>T,p.R642X,1938(p.Arg642stop.1938)and C.5704(exon33)_C.5705(exon33)ins T,P.Y1902 L.fs*2(p.Tyr1902Leu.fs*2),which was a compound heterozygous mutation:father with C.1924(exon9)C>T,p.R642X,1938(p.Arg642stop.1938);mother with C.5704(exon33)_C.5705(exon33)ins T,P.Y1902 L.fs*2(p.Tyr1902Leu.fs*2).Conclusion The C.1924(exon9)C>T,P.R642X,1938(p.Arg642stop.1938)in the child is an unreported mutation which is from father,the C.5704(exon33)C.5705(exon33)ins T,P.Y1902 L.fs*2(p.Tyr1902Leu.fs*2)from mother enriches the variation spectrum of EPG5 gene and provides guidance for prenatal diagnosis and reproduction.

关 键 词：Vici综合征 胼胝体缺如 EPG5基因 

分 类 号：R596[医药卫生—内科学]