New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
| Autor: | Luydson Richardson Vasconcelos Silva, Thiago de Oliveira Silva, Gustavo Henrique de Sá Miranda Cavancante Filho, Jorge Luiz Carvalho Figueredo, Flavio José Siqueira Pacheco, Marcus Villander Barros de Oliveira Sá |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | European Journal of Case Reports in Internal Medicine. |
| ISSN: | 2284-2594 |
| DOI: | 10.12890/2022_003655 |
| Popis: | We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene. A compound mutation of the ATP7B gene was found with the variant c.98T>C p(Met33Thr) in exon 2, in heterozygosis, and variant c.2224G>A (Val742Ile) in exon 8, in heterozygosis. Patient age should not be a determinant for excluding WD. Genetic sequencing is an important tool for the discovery of new genetic mutations. |
| Databáze: | OpenAIRE |
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