关键词: Vici综合征, 胼胝体缺如, EPG5基因

Abstract: ObjectiveTo 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.MethodsClinical 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.ResultsThe 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.Y1 902 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.Y1 902 L.fs*2（p.Tyr1902Leu.fs*2）.ConclusionThe 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.Y1 902 L.fs*2（p.Tyr1902Leu.fs*2） from mother enriches the variation spectrum of EPG5 gene and provides guidance for prenatal diagnosis and reproduction. 

Key words:

Vici syndrome, Absence of corpus callosum, EPG5 gene