Kenney Susan M, Cox Diane W
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Hum Mutat. 2007 Dec;28(12):1171-7. doi: 10.1002/humu.20586.
Wilson disease (WND) is a disorder of copper transport resulting in copper accumulation in liver, kidney, and brain. This recessive disorder expresses variable clinical symptoms affecting liver, brain, and/or kidney. The age of onset of symptoms varies from 3 to almost 70 years, so the diagnosis for this treatable disorder is easily missed. The defective gene is a membrane P-type ATPase, with similar structure to the other metal transporting ATPases. Most patients with Wilson disease are compound heterozygotes. This report describes the database we have developed for reporting of mutations in ATP7B, the gene defective in WND. The database includes more than 518 variants (379 probable disease-causing and the remainder possible normal variants) from populations worldwide (Available at: www.medicalgenetics.med.ualberta.ca/wilson/index.php; Last accessed: 20 June 2007). The tables in this database are a valuable resource for the study of population variation and the function of the transporter, and will assist in the identification of disease and non-disease-causing sequence variants.
威尔逊病（WND）是一种铜转运障碍疾病，会导致铜在肝脏、肾脏和大脑中蓄积。这种隐性疾病表现出影响肝脏、大脑和/或肾脏的多种临床症状。症状的发病年龄从3岁到近70岁不等，因此这种可治疗疾病的诊断很容易被漏诊。缺陷基因是一种膜P型ATP酶，其结构与其他金属转运ATP酶相似。大多数威尔逊病患者是复合杂合子。本报告描述了我们为报告WND中缺陷基因ATP7B的突变而开发的数据库。该数据库包含来自全球人群的518多个变体（379个可能致病变体，其余为可能的正常变体）（可访问：www.medicalgenetics.med.ualberta.ca/wilson/index.php；最后访问时间：2007年6月20日）。该数据库中的表格是研究群体变异和转运蛋白功能的宝贵资源，将有助于识别致病和非致病序列变体。
