Variants in Patients with Suspected CADASIL.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) is the most common hereditary form of cerebral small vessel disease. It is clinically, radiologically, and genetically heterogeneous and is caused by mutations.

Methods: In this study, we analyzed in 368 patients with suspected CADASIL using next-generation sequencing.

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.

Clinical significance of hypouricemia in children and adolescents.

Background: Although hyperuricemia is a widely studied condition with well-known effects on the kidneys, hypouricemia is usually considered a biochemical abnormality of no clinical significance despite the fact that it can be a sign or major finding of serious metabolic or genetic diseases affecting kidney health. In this study, we aimed to investigate and emphasize the clinical significance of hypouricemia.

Methods: Patients were evaluated retrospectively for persistent hypouricemia defined as serum uric acid concentrations of < 2 mg/dL on at least 3 different occasions.

Clinical exome sequencing findings in 1589 patients.

Clinical exome sequencing (CES) is important for the diagnosis of Mendelian diseases, which are clinically and etiologically heterogeneous. Sharing of large amounts of CES data associated with clinical findings will increase the accuracy of variant interpretation. We performed a retrospective study to state the diagnostic yield of CES in 1589 patients with a wide phenotypic spectrum.