Genetic insights into unexplained infant jaundice: a study from northern Guangdong, China

To explore the genetic factors contributing to unexplained infant jaundice and evaluate the significance of gene screening related to jaundice.

Infants jaundice with unknown etiology attending the neonatology and pediatrics departments of Yuebei People's Hospital from January 2022 to July 2024 were selected as the subjects of this study. The exon regions of 161 jaundice-related genes were detected by targeted capture and high-throughput sequencing technology, and the results were statistically analyzed.

A total of 56 infants were included in the study, with 29 cases (51.8%) showing positive results. These cases involved six diseases: Gilbert syndrome in 7 cases (12.5%), sodium taurocholate co-transporting polypeptide (NTCP) deficiency in 8 cases (14.2%), glucose-6-phosphate dehydrogenase (G6PD) deficiency in 4 cases (7.1%), a combination of Gilbert syndrome and G6PD deficiency in 5 cases (8.9%), citrin deficiency combined with G6PD deficiency in 1 case (1.8%), Dubin-Johnson syndrome combined with Rotor syndrome in 1 case (1.8%), NTCP deficiency combined with G6PD deficiency in 2 cases (3.6%), and NTCP deficiency combined with Gilbert syndrome in 1 case (1.8%). Among the 56 infants, 55 cases (98.2%) had one or more gene mutation sites, with only 1 case (1.8%) showing no mutation sites. The five high-frequency mutation sites were the UGT1A1 gene c.211G>A and c.-55_-54insAT sites, the G6PD gene c.1376G>T, c.871G>A, and c.1388G>A sites, and the SLC10A1 gene c.800C>T site.

Genetic factors significantly contribute to the development of infant jaundice of unknown etiology. Common pathogenic genes include the UGT1A1, G6PD, and SLC10A1 genes, which have high-frequency mutation sites within the population. Conducting genetic screening for infants with jaundice of unknown etiology holds significant clinical importance.