Ontology highlight
ABSTRACT: Learning points
Wilson disease (WD) is an autosomal recessive disorder of copper metabolismPatient age should not exclude WD, and symptoms compatible with WD should raise suspicion for WD even in older people.Genetic sequencing is an important tool in the discovery of new genetic mutations.
SUBMITTER: Barros de Oliveira Sa MV
PROVIDER: S-EPMC9829024 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Barros de Oliveira Sá Marcus Villander MV Siqueira Pacheco Flavio José FJ Carvalho Figueredo Jorge Luiz JL de Sá Miranda Cavancante Filho Gustavo Henrique GH de Oliveira Silva Thiago T Silva Vasconcelos Luydson Richardson LR
European journal of case reports in internal medicine 20221201 12
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.<h4>Learning points</ ...[more]