[Clinical characteristics and genetic analysis of four children with Rotor syndrome].

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  • Author(s): Tan Y;Tan Y; Ouyang W; Jiang T; Tang L; Zhang H; Yu Y; Qin X; Li S
  • Source:
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jun 10; Vol. 41 (6), pp. 715-719.
  • Publication Type:
    Journal Article; English Abstract
  • Language:
    Chinese
  • Additional Information
    • Source:
      Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
    • Publication Information:
      Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
      Original Publication: Chengdu : Hua xi yi ke da xue,
    • Subject Terms:
      Solute Carrier Organic Anion Transporter Family Member 1B3*/genetics ; Genetic Testing*/methods; Humans ; Male ; Female ; Child ; Child, Preschool ; Liver-Specific Organic Anion Transporter 1/genetics ; Exome Sequencing ; Infant ; Mutation
    • 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.
    • Accession Number:
      0 (Solute Carrier Organic Anion Transporter Family Member 1B3)
      0 (SLCO1B1 protein, human)
      0 (SLCO1B3 protein, human)
      0 (Liver-Specific Organic Anion Transporter 1)
    • Publication Date:
      Date Created: 20240531 Date Completed: 20240531 Latest Revision: 20240614
    • Publication Date:
      20240615
    • Accession Number:
      10.3760/cma.j.cn511374-20220520-00342
    • Accession Number:
      38818556