AI Article Synopsis
- The study looked at a patient with yellow skin (jaundice) to figure out what caused it.
- They collected information about the patient and their parents and used special technology to examine genes related to liver diseases.
- They found two rare gene changes from the patient’s parents that caused a condition called Dubin-Johnson syndrome.
Article Abstract
Objective: To explore the genetic etiology and differential diagnosis for a patient with jaundice.
Methods: Clinical data of the patient and his parents were collected. Genes associated with metabolic liver diseases were subjected to high-throughput sequencing. The pathogenicity of the candidate variants was predicted by using bioinformatics software.
Results: High-throughput sequencing revealed that the proband has harbored two variants of the ABCC2 gene (NM_000392) including c.3011C>T (p.T1004I) and c.3541C>T (p.R1181X), which were respectively inherited from his father and mother. Both variants have been previously unreported and predicted to be pathogenic by bioinformatics analysis.
Conclusion: The proband was diagnosed with Dubin-Johnson syndrome due to the compound heterozygous variants of the ABCC2 gene. Genetic testing has enabled accurate differential diagnosis of Dubin-Johnson syndrome in this patient.
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| http://dx.doi.org/10.3760/cma.j.cn511374-20210530-00458 | DOI Listing |
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