›› 2019, Vol. 39 ›› Issue (11): 1583-1586.

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Clinical characteristics and gene mutation analysis of a genealogy with Dubin-Johnson syndrome

  

  • Received:2018-12-05 Revised:2019-03-28 Online:2019-11-05 Published:2019-11-05

Abstract: Objective To analyze the clinical features and gene mutations of Dubin-Johnson syndrome(DJS). Methods Clinical features and gene testing results in two children with Dubin-Johnson syndrome were retrospectively analyzed. Results The proband is a 5 years old girl, and his younger sister is 3 years old, both of them had jaundice and direct bilirubin is high,but liver function is normal. Their parents are health. Genetic analysis found the two patients had Compound heterozygosis. One come father ,nonsence mutation of c.3811 C>T(p.Arg1271Stop)in ABCC2 gene, another come from mother, missense mutation of c.4024T>C(P.Ser1342Pro) in ABCC2 gene. ABCC2 mutations cause clinical symptoms by affecting the multidrug resistance-associated protein 2(MRP2). Conclusions ABCC2 is the pathogenic gene of Dubin-Johnson syndrome, and its hereditary types is autosomal -recessive inheritance.

Key words: Dubin-Johnson syndrome , ABCC2,  autosomal -recessive inheritance .