Analysis of a genetically novel locus in the ABCC2 gene and its familial mutations in a patient with Dubin-Johnson syndrome and literature review
Dubin-Johnson syndrome(DJS)is a rare autosomal recessive genetic disease,the pathogenesis is associated with mutations in ABCC2,the gene encoding MRP2,which is distributed in the apical tubule membrane of the polarized epithelium of hepatocytes,the etiolo-gy of ABCC2 gene mutation in DJS patients in China is still unclear,and there are fewer case reports of related studies.In this paper,we an-alyzed the clinical data and gene mutation of an adolescent male DJS patient with the aim of providing more references for future DJS diagno-sis.This patient was remarkable for chronic jaundice and elevated blood direct bilirubin,and genetic testing revealed heterozygous variants in the ABCC2 and UGT1A1 genes,which were inherited from his parents.In addition,the same mutation in the ABCC2 gene was found in the patient's old sister,but no variant was seen in the UGT1A1 gene.Therefore,the diagnosis of DJS was confirmed in this patient,not exclu-ding the concomitant combination of Gilbert syndrome and Crigler-Najjar syndrome type Ⅱ.The two ABCC2 gene mutations reported in the paper have not been previously reported in the literature,providing important clinical information for the diagnosis and management of DJS in China,and demonstrating that genetic second generation testing is useful in understanding the genotypic and phenotypic associations of DJS.
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