Objective To explore the genetic etiology for a Chinese pedigree affected with familial exudative vitreoretinopathy.Methods A FEVR pedigree was detected by whole exome sequencing(WES).Candidate variant was validated by Sanger sequencing and bioinformatics analysis.prenatal diagnosis and genetic counseling for the once again fetus.Results The WES results showed that the proband has harbored a frameshift variation c.1093delG(p.Val365*)of exon 9 in KIF11 gene.Based on guidelines from the American College of Medical Genetics(ACMG),the variation was predicted as pathogenic.Sanger sequencing confirmed that the variation was not detected in the normal individuals and the fetus of the family.Conclusion The frameshift variation c.1093delG(p.Va1365*)of KIF11 gene was reported for the first time been reported in previous studies,which enriches the mutation spectrum of KIF11 gene.This study expanded the mutation spectrum of KIF11 gene.
Familial exudative vitreoretinopathyKI F1 1 genePrenatal diagnosisWhole exome sequencing
维普
万方数据
