Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency.
10.3760/cma.j.cn511374-20201212-00872
- Author:
Wenwen LIU
1
;
Xin MA
;
Meijuan WANG
;
Huijuan NING
;
Xuemei ZHONG
Author Information
1. Department of Gastroenterology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China. zhongxuemei@shouer.com.cn.
- Publication Type:Journal Article
- MeSH:
Calcium-Binding Proteins/genetics*;
Cholestasis, Intrahepatic/genetics*;
Citrullinemia/genetics*;
Humans;
Infant;
Infant, Newborn;
Mitochondrial Membrane Transport Proteins/genetics*;
Mutation;
Organic Anion Transporters/genetics*;
Protein Deficiency
- From:
Chinese Journal of Medical Genetics
2022;39(2):139-142
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the characteristics of SLC25A13 gene variants in 16 infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
METHODS:The infants were subjected to high-throughput DNA sequencing for coding exons and flanking regions of the target genes. Suspected variants were verified by Sanger sequencing and bioinformatic analysis.
RESULTS:Among the 16 NICCD cases, 15 were found to harbor pathogenic variants. Among these, IVS14-9A>G, c.1640G>A, c.762T>A, c.736delG, c.1098Tdel and c.851G>A were previously unreported.
CONCLUSION:Six novel SLC25A13 variants were found by high-throughput sequencing, which has enriched the spectrum of SLC25A13 gene variants and provided a basis for genetic counseling and prenatal diagnosis.
