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Sir, Patients with neurologic Wilson’s disease (WD) often suffer from a diagnostic delay or misdiagnosis due to an atypical presentation. This may include the concomitant presence of motor signs with variable severity and psychiatric symptoms without noticeable hepatic symptoms.[1, 2] A prompt molecular testing of ATP7B (MIM: 606882) is often required in neurologic WD patients to confirm the clinical diagnosis and to facilitate screening of the family members.[3] Traditional ATP7B testing method is time‑consuming and includes Sanger sequencing of the ATP7B exons followed by deletion/duplication analysis, if required. Recent advances in the whole‑genome sequencing (WGS) technologies combined with the cost reduction and standardization of data processing make WGS a potentially universal time and cost effective molecular diagnostic tool. We evaluated the diagnostic utility of the WGS in a family with …