Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases

Genetic factors play an important role in neonatal hyperbilirubinemia (NH) caused by genetic diseases.

To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.

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.

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.

Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns.