The phenotypes and genotypes of four patients with Dubin-Johnson syndrome.
10.3760/cma.j.cn511374-20210111-00026
- Author:
Qinghua WU
1
;
Beibei MA
;
Saisai YANG
;
Zhihui JIAO
;
Xin CHEN
;
Shumin REN
;
Yibing CHEN
;
Huirong SHI
;
Xiangdong KONG
Author Information
1. Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. qh_wu77@163.com.
- Publication Type:Journal Article
- MeSH:
DNA;
Female;
Heterozygote;
Humans;
Jaundice, Chronic Idiopathic/genetics*;
Male;
Multidrug Resistance-Associated Protein 2;
Multidrug Resistance-Associated Proteins/genetics*;
Phenotype
- From:
Chinese Journal of Medical Genetics
2022;39(10):1065-1069
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology in four patients with hyperbilirubinemia, and discuss the correlation between clinical characteristics and molecular basis.
METHODS:The data of clinical manifestation and auxiliary examinations were collected. Genomic DNA of the four patients was extracted and analyzed by next-generation sequencing using the panel including genes involved in hereditary metabolic liver diseases. Suspected variants were verified by Sanger sequencing.
RESULTS:All of the four patients were males with normal liver enzymes. It was revealed that all the patients had heterozygous variants, among which c.3011C>T, c.2443C>T and c.2556del were the variants which have not been reported previously.
CONCLUSION:All of the patients were diagnosed as Dubin-Johnson syndrome (DJS) caused by ABCC2 gene variants. The novel variants add to the spectrum of genetic variants of the disease. Because of the favorite prognosis, precise diagnosis can greatly reduce the psychological pressure of patients and avoid excessive treatments. At the same time, it could provide pertinent genetic counseling for the families.
