Sequence variation database for the Wilson disease copper transporter, ATP7B

✍ Scribed by Susan M. Kenney; Diane W. Cox

• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 182 KB
• Volume: 28
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.20586

✦ Synopsis

Communicated by A. Jamie Cuticchia 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;