Клиническая ценность секвенирования гена ATP7B в диагностике болезни Вильсона-Коновалова

Wilson disease (WD) is an autosomal recessive copper accumulation disorder. ATP7B gene codes a protein which transports copper. Over 800 mutations has been identified in this gene. We present a case of 22 years old woman with clinical picture of cryptogenic hepatitis, oligomenorrhea and negative results of test for 8 frequent mutations. The sequencing of gene ATP7B had performed, and two mutations were identified: known mutation c.3190G>A (p.Glu1064Lys) and novel mutation c.3655A>T (p.Ile1219Phe). Therefore, WD diagnosis was confirmed and then copper helation therapy was started with positive effect.