Analysis of variants of VPS13B gene in a child with Cohen syndrome.
10.3760/cma.j.cn511374-20251211-00714
- Author:
Xin XU
1
,
2
;
Hong XU
;
Hongying LI
;
Min ZHU
;
Yikang HE
;
Ling ZHANG
Author Information
1. Department of Rehabilitation, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China. hdyxyzl@
2. com.
- Publication Type:English Abstract
- MeSH:
Humans;
Male;
Vesicular Transport Proteins/genetics*;
Intellectual Disability/genetics*;
Muscle Hypotonia/genetics*;
Microcephaly/genetics*;
Fingers/abnormalities*;
Myopia/genetics*;
Obesity/genetics*;
Developmental Disabilities/genetics*;
Mutation;
Exome Sequencing;
Child;
Heterozygote;
Retinal Degeneration
- From:
Chinese Journal of Medical Genetics
2025;42(11):1387-1392
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a boy affected with Cohen syndrome.
METHODS:A boy admitted to Children's Hospital of Nanjing Medical University in January 2021 was selected as the study subject. Genome DNA was extracted from peripheral blood samples from the child and his parents. Whole exome sequencing (WES) was carried out. And candidate variants were verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 202106060-1).
RESULTS:WES revealed that the child has harbored compound heterozygous variants of the VPS13B gene, namely c.1563+1G>A and c.3007insC (p.A1003Afs*13), which were inherited from his mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rates as pathogenic. The c.3007insC (p.A1003Afs*13) was unreported previously.
CONCLUSION:The compound heterozygous variants c.1563+1G>A and c.3007insC (p.A1003Afs*13) of the VPS13B gene probably underlay the pathogenesis of Cohen syndrome in this child. Above finding has enriched the mutational spectrum of VPS13B gene.
