Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.

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 Statistical Package for the Social Sciences 20.0 software.

RESULTS

Seventeen frequently mutated genes were found in the 105 patients. () variants were identified among the 68 cases of neonatal Gilbert syndrome. In patients with sodium taurocholate cotransporting polypeptide deficiency, the primary mutation identified was (). () mutations primarily occur in patients with hepatolenticular degeneration (Wilson's disease). In addition, we found that and mutations were more common in the high-risk group than in the low-risk group, whereas mutations in , , and 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.