New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
  • 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

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: 2022: Vol 9 No 12 (view)

    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 2022;9 doi:10.12890/2022_003655.