Analysis of genetic variants in a case with Rotor syndrome.
10.3760/cma.j.cn511374-20200131-00051
- Author:
Dayan WANG
1
;
Xiaobing LI
;
Panjian LAI
;
Lanjin ZHENG
Author Information
1. Department of Pediatrics, Jinhua Central Hospital, Jinhua, Zhejiang 321000, China. airy005@163.com.
- Publication Type:Journal Article
- MeSH:
Exons/genetics*;
Homozygote;
Humans;
Hyperbilirubinemia, Hereditary;
Introns/genetics*;
Liver-Specific Organic Anion Transporter 1;
Male;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(4):359-362
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient featuring Rotor syndrome.
METHODS:Clinical data of the patient was collected. Whole exome sequencing (WES) based on high-throughput sequencing technology was carried out. Long-interspersed element-1 (LINE-1) insertion in intron 5 of the SLCO1B3 gene was detected by using tri-primer single tube PCR.
RESULTS:WES revealed that the patient has carried homozygous c.1738C>T nonsense variants of the SLCO1B1 gene. He was also found to harbor a homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene, which has caused skipping of exon 5 or exons 5 to 7 and introduced a stop codon in the SLCO1B3 transcript.
CONCLUSION:The homozygous c.1738C>T variant of the SLCO1B1 gene and homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene probably underlay the Rotor syndrome in this patient.
