Novel UGT1A1 Gene Mutations in a Boy with Crigler–Najjar Syndrome Type II
| Autor: | Mireia Arroyo-Hernández, Bárbara Montes-Zapico, María García-Hoyos, Ana-Cristina Rodríguez-Dehli, David Pérez-Solís |
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| Rok vydání: | 2020 |
| Předmět: |
0303 health sciences
Mutation Crigler–Najjar syndrome 030305 genetics & heredity Glutamic acid Biology medicine.disease_cause medicine.disease Molecular biology 03 medical and health sciences 0302 clinical medicine Pediatrics Perinatology and Child Health Glycine Genetic variation medicine Missense mutation Leucine Allele 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | J Pediatr Genet |
| ISSN: | 2146-460X 2146-4596 |
| DOI: | 10.1055/s-0040-1714361 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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