巴西南部的威尔逊氏病：ATP7B基因的基因型-表型相关性及两个新突变的描述
Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
作者信息
Bem Ricardo Schmitt de, Raskin Salmo, Muzzillo Dominique Araújo, Deguti Marta Mitiko, Cançado Eduardo Luiz Rachid, Araújo Thiago Ferreira, Nakhle Maria Cristina, Barbosa Egberto Reis, Munhoz Renato Puppi, Teive Hélio Afonso Ghizoni
机构信息
UFPR, Gastroenterology and Hepatology Service, Internal Medicine Department, Curitiba PR, Brazil.
出版信息
Arq Neuropsiquiatr. 2013 Aug;71(8):503-7. doi: 10.1590/0004-282X20130078.
OBJECTIVE
Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil.
METHODS
36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed.
RESULTS
Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time.
CONCLUSION
The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.
目的
威尔逊病（WD）是一种由铜转运蛋白编码基因ATP7B异常引起的先天性代谢缺陷病。在本研究中，我们检测了巴西南部一组患者的ATP7B基因是否存在突变。
方法
对36例WD患者进行研究，并根据其临床和流行病学数据进行分类。对其中23例患者的ATP7B基因进行了分析。
结果
在至少一个等位基因中检测到14种不同的突变。外显子14的c.3207C>A替换是最常见的突变（等位基因频率=37.1%），其次是外显子15的c.3402delC（等位基因频率=11.4%）。外显子7的c.2018 - 2030del13和外显子20的c.4093InsT突变首次被报道。
结论
外显子14的c.3207C>A替换是最常见的突变，等位基因频率为37.1%。该突变是欧洲报道的最常见突变。
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