Retrospective Cohort Study
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Dec 9, 2024; 13(4): 98462
Published online Dec 9, 2024. doi: 10.5409/wjcp.v13.i4.98462
Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases
Jin-Ying You, Ling-Yun Xiong, Min-Fang Wu, Jun-Song Fan, Qi-Hua Fu, Ming-Hua Qiu
Jin-Ying You, Ling-Yun Xiong, Min-Fang Wu, Jun-Song Fan, Qi-Hua Fu, Ming-Hua Qiu, Department of Neonatal, The Second Affiliated Hospital of Xiamen Medical College, Xiamen 361021, Fujian Province, China
Co-first authors: Jin-Ying You and Ling-Yun Xiong.
Author contributions: You JY conceived and designed the study; Xiong LY wrote the manuscript; Wu MF, Fan JS, Fu QH, and Qiu MH collected data and performed bioinformatics analysis; You JY and Xiong LY edited and revised the manuscript; all of the authors read and approved the final version of the manuscript to be published.
Supported by The Xiamen Municipal Science and Technology Bureau Project, No. 3502Z20209177.
Institutional review board statement: This study was reviewed and approved by the Ethics Committee of the Second Affiliated Hospital of Xiamen Medical College, No. 2020039.
Informed consent statement: The patient has signed the informed consent form.
Conflict-of-interest statement: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Data sharing statement: Analyzed data are available from the corresponding author on reasonable request.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jin-Ying You, BSc, Chief Physician, Doctor, Department of Neonatal, The Second Affiliated Hospital of Xiamen Medical College, No. 566 Shengguang Road, Jiemei District, Xiamen 361021, Fujian Province, China. youjafb@163.com
Received: June 26, 2024
Revised: September 25, 2024
Accepted: October 15, 2024
Published online: December 9, 2024
Processing time: 125 Days and 20.6 Hours
Core Tip

Core Tip: Variations in the frequency and distribution of gene mutations are observed in neonatal hyperbilirubinemia (NH) caused by inherited diseases, with uridine 5'-diphospho-glucuronosyltransferase 1A1 mutations prevalent in neonatal Gilbert syndrome cases, Na+/taurocholate cotransporting polypeptide Ntcp mutations in sodium taurocholate cotransporting polypeptide deficiency patients, and Adenosine triphosphatase mutations in Wilson's disease. The distinct genetic profiles between the high-risk and low-risk groups suggest the potential utility of genetic screening for risk stratification and early intervention in NH.