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Review
. 2024 Dec 9;13(4):98462.
doi: 10.5409/wjcp.v13.i4.98462.

Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases

Jin-Ying You  1 , Ling-Yun Xiong  2 , Min-Fang Wu  2 , Jun-Song Fan  2 , Qi-Hua Fu  2 , Ming-Hua Qiu  2
Affiliations
Review

Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases

Jin-Ying You et al. World J Clin Pediatr. .

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.

Keywords: Gene mutation; Genetic polymorphisms; Hyperbilirubinemia; Inherited diseases; Neonates.

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Conflict of interest statement

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.

Figures

Figure 1
Figure 1
Results for the percentage of mutated genes in 105 patients. UGT1A1: Uridine 5'-diphospho-glucuronosyltransferase 1A1; SLC10A1: Na+/taurocholate cotransporting polypeptide Ntcp; SLC25A13: Heterozygous 851del4 mutation; ATP7B: Adenosine triphosphatase 7B; JAG1: Jagged 1; NPC1: Niemann-Pick type C 1; ABCC2: Adenosine triphosphatase-binding cassette subfamily C member 2; G6PD: Glucose-6-phosphate dehydrogenase.
Figure 2
Figure 2
Analysis of the percentage of genes between the high and low total serum bilirubin groups. The blue bars represent the high-risk group with a total bilirubin level greater than 342 μmol/L. The orange bars correspond to the high-risk group with a total bilirubin level of less than 342 μmol/L. UGT1A1: Uridine 5'-diphospho-glucuronosyltransferase 1A1; SLC10A1: Na+/taurocholate cotransporting polypeptide Ntcp; SLC25A13: Heterozygous 851del4 mutation; ATP7B: Adenosine triphosphatase 7B; G6PD: Glucose-6-phosphate dehydrogenase.
See this image and copyright information in PMC

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