Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

ABSTRACT:

Background

Several inherited diseases cause hyperferritinemia with or without iron overload. Differential diagnosis is complex and requires an extensive work-up. Currently, a clinical-guided approach to genetic tests is performed based on gene-by-gene sequencing. Although reasonable, this approach is expensive and time-consuming and Next Generation Sequencing (NGS) technology may provide cheaper and quicker large-scale DNA sequencing.

Methods

We analysed 36 patients with non-HFE-related hyperferritinemia. Liver iron concentration was measured in 33 by magnetic resonance. A panel of 25 iron related genes was designed using SureDesign software. Custom libraries were generated and then sequenced using Ion Torrent PGM.

Results

We identified six novel mutations in <

SUBMITTER: Ravasi G 

PROVIDER: S-EPMC8623017 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature