Genetic analysis in 331 cases of neonatal hyperbilirubinemia with unknown etiology
10.3760/cma.j.issn.2096-2932.2022.06.008
- VernacularTitle:不明原因新生儿高胆红素血症331例遗传因素分析
- Author:
Ribao LI
1
;
Xia GU
;
Guohao WU
;
Zhirong DENG
;
Jianquan KANG
;
Zao LIANG
;
Taohan MIAO
;
Liuhong QU
;
Zhonghe WAN
;
Yongxue LU
;
Jinyou DENG
;
Dongjun LIU
;
Wangkai LIU
;
Weiben HUANG
;
Xin XIAO
;
Hu HAO
;
Sitao LI
Author Information
1. 吴川市妇幼保健计划生育服务中心新生儿科，湛江 524500
- Keywords:
Infant, newborn;
Hyperbilirubinemia;
Gene;
Variation
- From:Chinese Journal of Neonatology
2022;37(6):520-524
- CountryChina
- Language:Chinese
-
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.
