The characteristics of SLC25A13 gene variations of infantile intrahepatic cholestasis with unknown etiology
FANG Lingjuan, LIN Xiaochun, XU Zhang, HUANG Kaiyu, CHEN Guiping, YAN Xiumei.
Department of Pediatric Gastroenterology, the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University, Wenzhou 325027, China
FANG Lingjuan,LIN Xiaochun,XU Zhang, et al. The characteristics of SLC25A13 gene variations of infantile intrahepatic cholestasis with unknown etiology[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2021, 51(10): 822-826.
Abstract：Objective: To investigate the characteristics of SLC25A13 gene variations of infantile intrahepatic cholestasis with unknown etiology. Methods: Infants with intrahepatic cholestasis of unknown etiology who were hospitalized in the Department of Gastroenterology of the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University from January 2016 to December 2020 were selected. Next generation sequencing was performed to select variations of SLC25A13 gene, and Sanger sequencing was used to identify variations of SLC25A13 gene. Additionally, the two most frequent large- fragment variations of SLC25A13 gene were also detected. Then, the characteristics of SLC25A13 gene variations and its function were analyzed. Results: Genetic testing was performed on 30 infants with intrahepatic cholestasis. SLC25A13 gene pathogenic variants were detected in 12 cases. The frequency of SLC25A13 gene in infantile intrahepatic cholestasis was 40%. The most common variation was c.852_855delTATG, p.M285Pfs*2. A novel variation (c.1808T>C,p.L603P) was identified. Conclusion: Citrin deficiency caused by SLC25A13 gene variation might be the most important cause of infantile intrahepatic cholestasis with unknown etiology, and the c.852_855delTATG,p.M285Pfs*2 was the most common pathogenic variation. The novel variation, which impairs citrin function, has expanded the variation spectrum of SLC25A13 gene.
