NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients.

ABSTRACT: (1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene vari

SUBMITTER: Jalowiec KA 

PROVIDER: S-EPMC8701725 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature