Clinical characteristics and genetic analysis of four children with Rotor syndrome
10.3760/cma.j.cn511374-20220520-00342
- VernacularTitle:Rotor综合征患儿4例的临床特征及遗传学分析
- Author:
Yanfang TAN
1
;
Wenxian OUYANG
;
Tao JIANG
;
Lian TANG
;
Hui ZHANG
;
Ying YU
;
Xiaomei QIN
;
Shuangjie LI
Author Information
1. 湖南省儿童医院肝病科，长沙 410007
- Keywords:
Rotor syndrome;
SLCO1B1 gene;
OATP family;
LINE-1
- From:
Chinese Journal of Medical Genetics
2024;41(6):715-719
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the characteristics of SLCO1B1/ SLCO1B3 gene variants among children with Rotor syndrome (RS). Methods:Four children who were admitted to the Department of Hepatology of Hunan Children′s Hospital between January 2019 and January 2022 were selected as the study subjects. Trio-whole exome sequencing was carried out for the four families, and gel electrophoresis was used to verify an insertional variant of long-interspersed element-1 (LINE-1).Results:Genetic testing has identified three variants of the SLCO1B1 gene, including c. 1738C>T (p.R580*), c. 757C>T (p.R253*) and c. 1622A>C (p.Q541P), and two variants of the SLCO1B3 gene, including c. 481+ 22insLINE-1 and c. 1747+ 1G>A among the children. Three of them were found to harbor homozygous variants of the SLCO1B1/ SLCO1B3 genes, and one has harbored compound heterozygous variants. Sanger sequencing confirmed the existence of all variants, and gel electrophoresis has confirmed the existence of the LINE-1 insertional variant of about 6 kb within intron 6 of the SLCO1B3 gene in all children. Conclusion:The pathogenesis of the RS among the four children may be attributed to the variants of the SLCO1B1/ SLCO1B3 genes. The LINE-1 insertion variant of the SLCO1B3 gene may be common among Chinese RS patients.
