European journal of case reports in internal medicine · 2022
New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease.
СтатьяНазвание и аннотация: Перевод в очереди
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Barros de Oliveira Sá Marcus Villander, Siqueira Pacheco Flavio José, Carvalho Figueredo Jorge Luiz, de Sá Miranda Cavancante Filho Gustavo Henrique, de Oliveira Silva Thiago, Silva Vasconcelos Luydson Richardson
Аннотация
UNLABELLED: 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.
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.
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.