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J Pediatr Genet 2021; 10(04): 323-325
DOI: 10.1055/s-0040-1714361
Case Report

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

David Pérez-Solís 
1   Department of Pediatrics, San Agustín University Hospital, Avilés, Spain
,
Bárbara Montes-Zapico
1   Department of Pediatrics, San Agustín University Hospital, Avilés, Spain
,
Ana-Cristina Rodríguez-Dehli
1   Department of Pediatrics, San Agustín University Hospital, Avilés, Spain
,
María García-Hoyos
2   Department of Medical Genetics, The National Institute of Genomic Medicine, S.L. Paterna, Spain
,
Mireia Arroyo-Hernández
1   Department of Pediatrics, San Agustín University Hospital, Avilés, Spain
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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

© 2020. Thieme. All rights reserved.

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