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Journal of Clinical and Experimental Hepatology logoLink to Journal of Clinical and Experimental Hepatology
. 2012 Jan 2;1(3):204–206. doi: 10.1016/S0973-6883(11)60239-9

Mutation Analysis in Crigler-Najjar Syndrome Type II—Case Report and Literature Review

Piyush Ranjan *,*, Sudha Kohli **, Renu Saxena **, Seema Thakur
PMCID: PMC3940311  PMID: 25755387

Abstract

Crigler-Najjar syndrome (CN) is a congenital defect in bilirubin conjugation due to complete or partial deficiency of uridine 5′-diphosphate-glucuronosyltransferase (UGT). It is of two types: CN type I and CN type II. Patients with CN type II present with indirect hyperbilirubinemia in adulthood. We report a CN type II with homozygous mutation in UGT1A1 gene. This is the first case report of mutation analysis in CN type II from India.

Keywords: Crigler-Najjar syndrome, indirect hyperbilirubinemia, UGT1A1 gene

Abbreviations: CN, Crigler–Najjar syndrome; DNA, deoxyribonucleic acid; HBsAg, hepatitis B surface antigen; HCV, hepatitis C virus; UGT, uridine 5′-diphosphate-glucuronosyltransferase

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