Identification of novel compound ATP7B mutations in a child with rare Wilson disease: A case report

Abstract

Abstract Background Wilson disease (WD) is an autosomal-recessive metabolic disorder characterized by excess copper accumulation predominantly in the liver, brain, and cornea. Clinical diagnosis of WD remains a challenge because of its phenotypic heterogeneity. Here we describe the novel mutation (p. K838N) in the ATP7B gene of a child with WD. The mutation affects a conserved ATP-binding domain that is involved in the catalytic cycle. We also describe the clinical outcome of this patient. Case presentation: We reported a successful early diagnosis and treatment of WD in a 5-year-old boy who presented with unexplained liver dysfunction and hepatitis. Using whole-exome sequencing (WES), we identified a novel ATP7B mutation, K838N, which is valuable for early diagnosis of WD. After combination therapy with penicillamine, zinc supplement, low-copper diet, and supportive treatments for infections, liver problems, and jaundice, the patient’s medical condition gradually improved and stabilized in a clinical follow-up. We suggested that the novel K838N mutation in the case of WD might impair protein function and contribute to WD progression. Conclusions This case emphasizes the importance of WD diagnostic tests during clinical evaluation for patients presenting with an unexplained liver disorder in childhood for better outcomes and genetic counseling.