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DOI: 10.1055/s-0040-1714361
Novel UGT1A1 Gene Mutations in a Boy with Crigler–Najjar Syndrome Type II
Funding None.![](https://www.thieme-connect.de/media/10.1055-s-00029027/202104/lookinside/thumbnails/10-1055-s-0040-1714361_2000065-1.jpg)
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.
Note
Written informed parental consent was obtained for both print and online publication of this case.
Publikationsverlauf
Eingereicht: 09. Mai 2020
Angenommen: 07. Juni 2020
Artikel online veröffentlicht:
29. Juli 2020
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