Novel UGT1A1 Gene Mutations in a Boy with Crigler–Najjar Syndrome Type II

Abstract

In this article, we reported a patient with Crigler–Najjar syndrome type II with high-unconjugated bilirubin levels that decreased after phenobarbital treatment. The patient had two novel missense mutations in the UGT1A1 gene and a promoter variant in one allele. One mutation was c.1001T > C, that predicted leucine to proline substitution at position 334 (p.Leu334Pro). The other, c.1139A > G, predicted glutamic acid to glycine replacement at position 380 (p.Glu380Gly). In silico analysis indicated that both mutations are likely pathogenic.

Keywords

Crigler–Najjar syndrome - hyperbilirubinemia - hereditary - genetic variation

Note

Written informed parental consent was obtained for both print and online publication of this case.

Publication History

Received: 09 May 2020

Accepted: 07 June 2020

Article published online:
29 July 2020

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