Related Experiment Video

Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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Recurrent SLCO1B1 and SLCO1B3 mutations identified in three patients with Rotor syndrome

Chenyu Zhao1,2, Hui Huang2

  • 1Department of Gastroenterology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.

Frontiers in Medicine
|September 3, 2025
PubMed

Insights

Rotor syndrome, a rare genetic disorder, is caused by mutations in SLCO1B1 and SLCO1B3 genes. This study identified specific mutations in three Chinese patients, advancing the understanding of this condition.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatrics

Background:

  • Rotor syndrome is a rare autosomal digenic recessive genetic disease.
  • It is characterized by conjugated hyperbilirubinemia.
  • Pathogenic mutations in SLCO1B1 and SLCO1B3 genes cause Rotor syndrome.

Purpose of the Study:

  • To establish a genetic diagnosis for three Chinese patients with Rotor syndrome.
  • To identify specific mutations in SLCO1B1 and SLCO1B3 genes in these patients.
  • To contribute to the identification of hotspot mutations in Rotor syndrome.

Main Methods:

  • Whole-exome sequencing was employed to identify mutations.
  • Genetic analysis was performed on three patients diagnosed with Rotor syndrome.
  • Specific gene variants were analyzed in SLCO1B1 and SLCO1B3.

Main Results:

  • All three patients shared the same homozygous c.1738C>T mutation in SLCO1B1.
  • The c.481+22insLINE variant in SLCO1B3 was also identified in all patients.
  • The identified mutations confirm the genetic basis of Rotor syndrome in the studied cohort.

Conclusions:

  • Genetic diagnosis was successfully established for the three patients.
  • The study highlights specific recurrent mutations in SLCO1B1 and SLCO1B3.
  • Findings contribute to a better understanding of the genetic landscape of Rotor syndrome.
Abstract

Keywords:
Rotor syndromeSLCO1B1SLCO1B3hyperbilirubinemiamutation

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