Dubin-Johnson syndrome in a neonate caused by ABCC2 gene mutation

VernacularTitle:ABCC2基因变异致新生儿Dubin-Johnson综合征1例
Author: Yanmin ZHANG ¹ ; Wei GAO ¹ ; Wei ZUO ¹ ; Chen YU ¹
Author Information

1. 安徽省儿童医院新生儿外科，合肥　230000
Publication Type:Journal Article
Keywords: ABCC2 protein, human; Dubin-Johnson syndrome; Abdominal distension; Infant, newborn
From: Chinese Journal of Perinatal Medicine 2025;28(6):514-516
CountryChina
Language:Chinese
Abstract: This study reported a case of neonatal Dubin-Johnson syndrome caused by variants in the ATP-binding cassette subfamily C member 2 ( ABCC2) gene. The infant, born at 36 weeks of gestation with no history of asphyxia, presented with abdominal distension accompanied by persistent skin jaundice and clay-colored stools. Whole-exome sequencing revealed two ABCC2 gene variants: an insertion (c.4237_c.4238insCT) at chromosome 10 position 101 606 808–101 606 809 inherited from the father, and a missense variant (c.517G>A) at chromosome 10 position 101 553 697 inherited from the mother. Following hepatoprotective therapy and oral administration of phenobarbital, the infant's clinical symptoms resolved. At follow-up until 3 years of age, the child exhibited normal growth and development comparable to peers.