中国当代儿科杂志2025，Vol.27Issue(6)：740-745,6.DOI:10.7499/j.issn.1008-8830.2412119
VPS13B基因复合杂合变异致儿童Cohen综合征1例
Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene
摘要
Abstract
A 7-year-old girl was admitted to the hospital with rapidly progressive vision loss.Since 1 year of age,she had exhibited developmental delay accompanied by visual impairment and neutropenia.Combined with genetic testing and molecular pathogenicity analysis,she was diagnosed with Cohen syndrome(CS)caused by compound heterozygous variants in VPS13B(c.6940+1G>T and c.2911C>T).The c.6940+1G>T variant resulted in exon 38 skipping,leading to a frameshift and premature termination.Reverse transcription quantitative polymerase chain reaction revealed significantly reduced VPS13B gene expression(P<0.05).Bioinformatic analysis suggested that both variants likely produce truncated proteins.This case highlights that integrating clinical features with molecular pathogenicity assessment(DNA,RNA,and protein analysis)can improve early diagnostic accuracy for CS.关键词
Cohen综合征/VPS13B基因/表型/基因型/儿童Key words
Cohen syndrome/VPS13B gene/Phenotype/Genotype/Child引用本文复制引用
梅鑫,贺孝良,高伟娜,王梦瑶,申静雯,魏菁,薛云..VPS13B基因复合杂合变异致儿童Cohen综合征1例[J].中国当代儿科杂志,2025,27(6):740-745,6.基金项目
河南省中国科学院科技成果转移转化项目(2018105). （2018105）
