Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene.
10.7499/j.issn.1008-8830.2412119
- Author:
Xin MEI
1
;
Xiao-Liang HE
;
Wei-Na GAO
1
;
Meng-Yao WANG
1
;
Jing-Wen SHEN
1
;
Jing WEI
;
Yun XUE
1
Author Information
1. College of Medical Technology and Engineering, Henan University of Science and Technology, Luoyang, Henan 471023, China.
- Publication Type:English Abstract
- Keywords:
Child;
Cohen syndrome;
Genotype;
Phenotype;
VPS13B gene
- MeSH:
Humans;
Female;
Child;
Vesicular Transport Proteins/genetics*;
Developmental Disabilities/etiology*;
Muscle Hypotonia/etiology*;
Myopia/etiology*;
Heterozygote;
Intellectual Disability/etiology*;
Microcephaly/etiology*;
Obesity/genetics*;
Growth Disorders/etiology*;
Retinal Degeneration/genetics*;
Psychomotor Disorders/genetics*;
Fingers/abnormalities*
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(6):740-745
- CountryChina
- Language:Chinese
-
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.
