ABSTRACT
Objective:
To study the
genetic profile of
neonatal hyperbilirubinemia with unknown
etiology in Guangdong Province and the
clinical significance of
jaundice-related
genetic screening.
Methods:
From July to September, 2021,
neonates with
hyperbilirubinemia of unknown
etiology born in different
hospitals in Guangdong Province were studied. 24
neonatal jaundice-related
exons were sequenced using targeted capture and
high-throughput sequencing technology. The pathogenic variants were analyzed.
Results:
A total of 331 cases, 139 (42.0%) cases showed positive
screening results with five
diseases, including 65 (19.6%) cases of
Gilbert syndrome, 48 (14.5%) cases of
glucose-6-phosphate dehydrogenase (G6PD)
deficiency,18 (5.4%) cases of
sodium taurocholate cotransporting
polypeptide deficiency, 4 (1.2%) cases of Citrin
deficiency and 4 (1.2%) cases of
Dubin-Johnson syndrome. 149 (45.0%) cases carried one or more genetic variants and 43 (13.0%) cases showed no clinically significant variants. The 8 high-frequency
mutation loci (carrier rate >1%) are UGT1A1
gene c.211G>A and c.1091C>T, G6PD
gene c.1466G>T and c.1478G>A, SLC10A1
gene c.800C>T, SLC25A13
gene c.852_855del TATG, HBB
gene c.126_129delCTTT and c.316-197C>T.
Conclusions:
Genetic factors are important for
neonatal hyperbilirubinemia with unknown
etiology in Guangdong. The common pathogenic
genes are UGT1A1, G6PD, SLC10A1, and SLC25A13 and the
population carries high-frequency
mutation loci. Therefore,
genetic screening in
neonates with
hyperbilirubinemia of unknown
etiology has important
clinical significance.