Diagnosis of a patient with Dubin-Johnson syndrome by using next generation sequencing / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics and molecular basis for a Chinese boy affected with jaundiced skin and liver disease.@*METHODS@#The patient was subjected to clinical examination and laboratory tests. Genomic DNA of the patient and his parents was extracted and analyzed by using next generation sequencing (NGS). Suspected mutations were analyzed with bioinformatic software and verified by Sanger sequencing.@*RESULTS@#The patient had jaundice in his eyes and skin. Serum bilirubin was elevated along with hepatomegaly. Next generation sequencing showed that the patient has carried c.18C>A(p.C6X) and c.2556delA mutations in the MRP2 gene, which were respectively inherited from his father and mother.@*CONCLUSION@#The missense mutation c.18C>A and frameshift mutation c.2556delA probably account for the disease. NGS has provided a powerful tool for the diagnosis of rare genetic diseases including Dubin-Johnson syndrome.