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Updated: Oct 11, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Novel UGT1A1 Gene Mutations in a Boy with Crigler-Najjar Syndrome Type II
David Pérez-Solís1, Bárbara Montes-Zapico1, Ana-Cristina Rodríguez-Dehli1
1Department of Pediatrics, San Agustín University Hospital, Avilés, Spain.
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.
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