ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.

Wilson's disease (WD) is a copper metabolism disorder caused by gene mutations and shows an autosomal recessive pattern of inheritance. We aimed to contribute to the mutation profile of and show demographic and phenotypic differences in this study. The clinical and demographic characteristics of patients who underwent gene sequence analysis using next-generation sequencing were evaluated to improve genotype-phenotype correlation in WD. An uncertain significance (D563N) and seven likely pathogenic (Y532D, Y715Y, T977K, K1028*, E1086K, A1227Pfs*103, and E1242K) variants were identified as associated with WD. Uniparental disomy was detected in one case. Our work expanded the variant spectrum and pointed to clinical heterogeneity in variants among patients with WD. All symptomatic patients had hepatic involvement and were clinically and/or genetically diagnosed with WD in the pediatric period. T977K, A1003V, H1069Q, E1086K, and N1270S variants were associated with hepatic failure.