1.Analysis of genetic variants in a case with Rotor syndrome.
Dayan WANG ; Xiaobing LI ; Panjian LAI ; Lanjin ZHENG
Chinese Journal of Medical Genetics 2021;38(4):359-362
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.
Exons/genetics*
;
Homozygote
;
Humans
;
Hyperbilirubinemia, Hereditary
;
Introns/genetics*
;
Liver-Specific Organic Anion Transporter 1
;
Male
;
Whole Exome Sequencing