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

Piyush Ranjan; Sudha Kohli; Renu Saxena; Seema Thakur

doi:10.1016/S0973-6883(11)60239-9

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

J Clin Exp Hepatol. 2011 Dec;1(3):204-6. doi: 10.1016/S0973-6883(11)60239-9. Epub 2012 Jan 2.

Authors

Piyush Ranjan¹, Sudha Kohli², Renu Saxena², Seema Thakur³

Affiliations

¹ Department of Gastroenterology, Sir Ganga Ram Hospital, New Delhi, India.
² Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
³ Department of Genetics and Fetal Medicine, Fortis Hospital, New Delhi, India.

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: CN, Crigler–Najjar syndrome; Crigler-Najjar syndrome; DNA, deoxyribonucleic acid; HBsAg, hepatitis B surface antigen; HCV, hepatitis C virus; UGT, uridine 5′-diphosphate-glucuronosyltransferase; UGT1A1 gene; indirect hyperbilirubinemia.