You JY, Xiong LY, Wu MF, Fan JS, Fu QH, Qiu MH. Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases. World J Clin Pediatr 2024; 13(4): 98462 [DOI: 10.5409/wjcp.v13.i4.98462]
Corresponding Author of This Article
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
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Retrospective Cohort Study
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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 byThe 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
Abstract
BACKGROUND
Genetic factors play an important role in neonatal hyperbilirubinemia (NH) caused by genetic diseases.
AIM
To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.
METHODS
This was a retrospective cohort study. One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College. A 24-gene panel was used for gene sequencing to analyze gene mutations in patients. The data were analyzed via Statistical Package for the Social Sciences 20.0 software.
RESULTS
Seventeen frequently mutated genes were found in the 105 patients. Uridine 5'-diphospho-glucuronosyltransferase 1A1 (UGT1A1) variants were identified among the 68 cases of neonatal Gilbert syndrome. In patients with sodium taurocholate cotransporting polypeptide deficiency, the primary mutation identified was Na+/taurocholate cotransporting polypeptide Ntcp (SLC10A1). Adenosine triphosphatase 7B (ATP7B) mutations primarily occur in patients with hepatolenticular degeneration (Wilson's disease). In addition, we found that UGT1A1 and glucose-6-phosphate dehydrogenase mutations were more common in the high-risk group than in the low-risk group, whereas mutations in SLC10A1, ATP7B, and heterozygous 851del4 mutation were more common in the low-risk group.
CONCLUSION
Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns.
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.
