title: Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.
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.
authors.affiliation: Department of Gastroenterology, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Piyush
authors.initials: P
authors.lastname: Ranjan
authors.affiliation: Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Sudha
authors.initials: S
authors.lastname: Kohli
authors.affiliation: Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.affiliation: Department of Genetics and Fetal Medicine, Fortis Hospital, New Delhi, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Thakur
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