https://scholars.lib.ntu.edu.tw/handle/123456789/634564
標題: | SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome | 作者: | Cheng, Ya-Yuan KAI-CHI CHANG PEI-LUNG CHEN Yeung, Chun-Yan Liou, Bang-Yu HUEY-LING CHEN |
關鍵字: | Genetic diagnosis; High-throughput nucleotide sequencing; Hyperbilirubinemia; Jaundice; Rotor syndrome | 公開日期: | 七月-2023 | 出版社: | Elsevier B.V. | 卷: | 122 | 期: | 7 | 起(迄)頁: | 648-652 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Rotor syndrome is a rare, benign, inherited disorder that is commonly associated with mild hyperbilirubinemia. It is caused by bi-allelic pathological variants in both SLCO1B1 and SLCO1B3 genes, causing defective OATP1B1 and OATP1B3 in the sinusoidal membrane and interrupted bilirubin uptake of the hepatocytes. We report five Taiwanese pediatric and adult patients aged 5-32 years presenting with conjugated hyperbilirubinemia, and were found to have genetic variants of SLCO1B1 and SLCO1B3. Two also had history of prolonged neonatal jaundice. Genetic analysis using panel-based next generation sequencing revealed three patients with homozygous mutations c.1738C>T (p.R580∗) in SLCO1B1 and a transposon LINE-1 insertion in SLCO1B3, one patient with homozygous mutations for another haplotype, c.757C>T (p.R253∗) in SLCO1B1 and c.1747+1G>A in SLCO1B3. Another patient had heterozygous c.1738C>T (p.R580∗) in SLCO1B1 linked with a LINE-1 insertion in SLCO1B3, and heterozygous c.757C>T (p.R253∗) in SLCO1B1 linked with c.1747+1G>A in SLCO1B3. In conclusion, we present the first time of genetic diagnosis of Rotor syndrome in Taiwan. Advanced genetic testing has enhanced the diagnosis of rare diseases with mild symptoms. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/634564 | ISSN: | 0929-6646 | DOI: | 10.1016/j.jfma.2023.03.003 |
顯示於: | 醫學系 |
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