一名患有威尔逊氏病的巴西患者中发现新的ATP7B基因突变。
New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease.
作者信息
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
机构信息
Real Clínica Médica; Real Hospital Português de Beneficência em Pernambuco, Recife, Brazil.
Instituto Aggeu Magalhães - Fundação Oswaldo Cruz, Recife, BraziL.
出版信息
Eur J Case Rep Intern Med. 2022 Dec 1;9(12):003655. doi: 10.12890/2022_003655. eCollection 2022.
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.
未标注
我们报告了一例70岁男性病例，该患者被诊断为迟发性威尔逊病（WD），仅有轻微神经症状，且ATP7B基因存在新突变。在ATP7B基因中发现了一个复合突变，外显子2中的变异为c.98T>C p(Met33Thr)，呈杂合状态，外显子8中的变异为c.2224G>A (Val742Ile)，也呈杂合状态。患者年龄不应成为排除WD的决定因素。基因测序是发现新基因突变的重要工具。
学习要点
威尔逊病（WD）是一种常染色体隐性铜代谢障碍疾病。患者年龄不应排除WD，即使在老年人中，与WD相符的症状也应引起对WD的怀疑。基因测序是发现新基因突变的重要工具。
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