دورية أكاديمية
SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome.
| العنوان: | SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome. |
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| المؤلفون: | Cheng YY; School of Medicine, National Taiwan University College of Medicine, Taipei, Taiwan., Chang KC; Department of Pediatrics, National Taiwan University Children's Hospital, National Taiwan University College of Medicine, Taipei, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan., Chen PL; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan., Yeung CY; Department of Pediatric Gastroenterology, Hepatology and Nutrition, MacKay Children's Hospital, Taipei, Taiwan., Liou BY; Department of Pediatrics, National Taiwan University Children's Hospital, National Taiwan University College of Medicine, Taipei, Taiwan., Chen HL; Department of Pediatrics, National Taiwan University Children's Hospital, National Taiwan University College of Medicine, Taipei, Taiwan; Department of Medical Education and Bioethics, National Taiwan, University College of Medicine, Taipei, Taiwan; Hepatitis Research Center, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: hueyling@ntu.edu.tw. |
| المصدر: | Journal of the Formosan Medical Association = Taiwan yi zhi [J Formos Med Assoc] 2023 Jul; Vol. 122 (7), pp. 648-652. Date of Electronic Publication: 2023 Mar 23. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Formosan Medical Association, Elsevier Country of Publication: Singapore NLM ID: 9214933 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0929-6646 (Print) Linking ISSN: 09296646 NLM ISO Abbreviation: J Formos Med Assoc Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2003- : Singapore : Formosan Medical Association, Elsevier Original Publication: Taipei, Taiwan : Formosan Medical Association, [1991- |
| مواضيع طبية MeSH: | Organic Anion Transporters*/genetics , Hyperbilirubinemia, Hereditary*/genetics, Adult ; Infant, Newborn ; Humans ; Child ; Organic Anion Transporters, Sodium-Independent/genetics ; Liver-Specific Organic Anion Transporter 1/genetics ; Solute Carrier Organic Anion Transporter Family Member 1B3/genetics ; Hyperbilirubinemia ; Mutation |
| مستخلص: | 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. Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article. (Copyright © 2023. Published by Elsevier B.V.) |
| فهرسة مساهمة: | Keywords: Genetic diagnosis; High-throughput nucleotide sequencing; Hyperbilirubinemia; Jaundice; Rotor syndrome |
| المشرفين على المادة: | 0 (Organic Anion Transporters, Sodium-Independent) 0 (Organic Anion Transporters) 0 (Liver-Specific Organic Anion Transporter 1) 0 (Solute Carrier Organic Anion Transporter Family Member 1B3) 0 (SLCO1B1 protein, human) 0 (SLCO1B3 protein, human) |
| تواريخ الأحداث: | Date Created: 20230324 Date Completed: 20230607 Latest Revision: 20230607 |
| رمز التحديث: | 20240829 |
| DOI: | 10.1016/j.jfma.2023.03.003 |
| PMID: | 36964102 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 0929-6646 |
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| DOI: | 10.1016/j.jfma.2023.03.003 |