Comprehensive analysis of gene mutation in neonatal hyperbilirubinemia caused by inherited diseases

We performed this study to explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases. One hundred and five patients with NH were obtained between September 2020 and June 2023 from the second Affiliated Hospital of Xiamen Medical College. We analyzed gene mutations in NH caused by inherited diseases by a 25-gene panel. Seventeen frequently mutated genes were found in the 105 patients. UGT1A1 variants were identified among the 71 cases of neonatal Gilbert syndrome. In these patients with sodium taurocholate cotransporting polypeptide (NTCP) deficiency, the primary mutation identified is SLC10A1 . ATP7B mutations primarily occur in patients with hepatolenticular degeneration (Wilson's disease). In addition, we found UGT1A1 and G6PD mutations were higher in the high-risk group than low-risk group, while mutations in SLC10A1 , ATP7B , and SLC25A13 were more common in the low-risk group. Conclusions : Gene mutations are significantly associated with NH. This study not only contributes to a deeper understanding of the pathogenesis of NH, but also provides new ideas for its prevention, diagnosis and treatment.