Mutation spectrum of 7 exons of ATP7B gene in Iranian patients with Wilson disease

To investigate the ATP7B gene in ethnically different Iranian patients with Wilson disease. ش Copper transporting beta polypeptide, ATP7B or WND gene is predominantly expressed in liver and has been identified as the defective gene. WND gene is located on Chr13q14. 3 and consists of 21 expressed exons. Patients and Diagnosis of WD was verified according to the biochemical characterizations including serum ceroluplasmin (25mmol/24h), liver copper (>250µg/g dry weight), Kayser-Fleischer rings, Cu-ATPase activity, and liver and brain imaging features. A total of 70 patients aged 5-40 years, were included. Patients were classified in three different categories; hepatic, neurologic and combined based on their clinical presentations. Bi-directional sequencing was performed using the ABI 3130xl, Genetic analyzer (Applied-Biosystem). Totally, 12 different mutations have been found in 18 patients with Wilson''s disease. Of these, T788I, 2803-2805 ACG>-TG, 2532delA and H1069N were novel mutations. Meanwhile, we have found 4 polymorphisms. Mutations are highly distributed among the different exons of ATP7B gene in Iranian patients with WD.