DOI: 10.12890/2022_003655

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease

Authors

  • Marcus Villander Barros de Oliveira Sá Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil; Instituto Aggeu Magalhães – Fundação Oswaldo Cruz, Recife, Brazil
  • Flavio José Siqueira Pacheco Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil
  • Jorge Luiz Carvalho Figueredo Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil
  • Gustavo Henrique de Sá Miranda Cavancante Filho Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil
  • Thiago de Oliveira Silva Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil
  • Luydson Richardson Vasconcelos Silva Instituto Aggeu Magalhães – Fundação Oswaldo Cruz, Recife, Brazil

marcusvillander@yahoo.com.br

Keywords

Wilson disease, ATP7B gene, older age

Abstract

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.

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Published

2022-12-01

Issue

Vol. 9 No. 12 (2022)

How to Cite

1.
Villander Barros de Oliveira Sá M, Siqueira Pacheco FJ, Carvalho Figueredo JL, de Sá Miranda Cavancante Filho GH, de Oliveira Silva T, Vasconcelos Silva LR. New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease. EJCRIM [Internet]. 2022 Dec. 1 [cited 2026 Nov. 4];9(12). Available from: https://ejcrim.com/index.php/ejcrim/article/view/3655

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