[Clinical characteristics and genetic analysis of four children with Rotor syndrome].
| Autor: | Tan Y; Department of Hepatology, Hunan Children's Hospital, Changsha, Hunan 410007, China. lishuangjie40@163.com., Ouyang W, Jiang T, Tang L, Zhang H, Yu Y, Qin X, Li S |
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| Jazyk: | čínština |
| Zdroj: | 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. |
| DOI: | 10.3760/cma.j.cn511374-20220520-00342 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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