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Novel UGT1A1 Gene Mutations in a Boy with Crigler-Najjar Syndrome Type II. 2021

David Pérez-Solís, and Bárbara Montes-Zapico, and Ana-Cristina Rodríguez-Dehli, and María García-Hoyos, and Mireia Arroyo-Hernández
Department of Pediatrics, San Agustín University Hospital, Avilés, Spain.

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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