Crigler-najjar syndrome type 2: Novel UGT1A1 mutation
Publication Type:Journal Article
Source:Indian Journal of Human Genetics, Volume 18, Number 2, p.233-234 (2012)
Keywords:adolescent, amino acid substitution, Anas, article, case report, Crigler Najjar syndrome, Crigler Najjar syndrome type 2, exon, female, gene mutation, glucuronosyltransferase 1A1, homozygosity, human, hyperbilirubinemia, leucine, newborn jaundice, phenobarbital, phototherapy, proline
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.
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