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

Autor:	Barros de Oliveira Sá MV; Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil.; Instituto Aggeu Magalhães - Fundação Oswaldo Cruz, Recife, BraziL., Siqueira Pacheco FJ; Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil., Carvalho Figueredo JL; Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil., de Sá Miranda Cavancante Filho GH; Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil., de Oliveira Silva T; Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil., Silva Vasconcelos LR; Instituto Aggeu Magalhães - Fundação Oswaldo Cruz, Recife, BraziL.
Jazyk:	angličtina
Zdroj:	European journal of case reports in internal medicine [Eur J Case Rep Intern Med] 2022 Dec 01; Vol. 9 (12), pp. 003655. Date of Electronic Publication: 2022 Dec 01 (Print Publication: 2022).
DOI:	10.12890/2022_003655
Abstrakt:	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. Competing Interests: Conflicts of Interests: The authors declare there are no competing interests. (© EFIM 2022.)
Databáze:	MEDLINE
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