Article
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
Journal of gastrointestinal and liver diseases : JGLD - 1 Dec 2015
Maruo Yoshihiro, Behnam Mahdiyeh, Ikushiro Shinichi, Nakahara Sayuri, Nouri Narges, Salehi Mansour
Abstract excerpt
BACKGROUND: Crigler-Najjar syndrome type I (CN-1) and type II (CN-2) are rare hereditary unconjugated hyperbilirubinemia disorders. However, there have been no reports regarding the co-existence of CN-1 and CN-2 in one family. We experienced a case of an Iranian family that included members with either CN-1 or CN-2. Genetic analysis revealed a mutation in the bilirubin UDP-glucuronosyltransferase (UGT1A1) gene...
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