Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation.
Date
2012-05
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Abstract
Crigler-Najjar syndrome type 2 is a rare cause for persistent unconjugated hyperbilirubinemia, inherited in an autosomal recessive manner. Even though it is compatible with normal life span, in the absence of prompt suspicion and intensive management it can prove fatal not only in the neonatal period but also during adult life. Here, we describe a case with a novel homozygous UGT1A1 p.Pro176Leu mutation.
Description
Keywords
Arias syndrome, Crigler-Najjar syndrome type 2, kernicterus, UGT1A1, unconjugated hyperbilirubinemia
Citation
Nair Karippoth Mohandas, Lohse Peter, Nampoothiri Sheela. Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation. Indian Journal of Human Genetics. 2012 May; 18(2): 233-234.