Genetic analysis and literature review of Crigler-Najjar syndrome typeⅠ / 临床儿科杂志

ObjectiveTo analyze the Uridine diphosphoglucuronyl transferase 1 A1 gene (UGT1A1) mutation in non-he-molytic indirect hyperbilirubinemia.MethodsA female patient was diagnosed with type I Crigler-Najjar syndrome (CNS-I) after excluding hemolysis and hypothyroidism. Phototherapy treatment is effective while oral phenobarbital was not. UGT1A1 were ampliifed by polymerase chain reaction and DNA was sequenced.ResultsThe patient was compound heterozygote of c.1070A>G p. (Gln357Arg) and 1091C>T p. (pro364Leu) and diagnosed with CNS-I. Heterozygotes of the mutation were found in her parents.ConclusionsIn patients highly suspected of CNS, the genetic tests should be carried out as soon as possible.