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

Giulia RavasiSara PelucchiFrancesca BertolaMartina Maria CapellettiRaffaella MarianiAlberto Piperno

Published in: Genes (2021)

Our results support the use of an NGS-based panel in selected patients with hyperferritinemia in a tertiary center for iron metabolism disorders. However, 26 out of 36 patients did not show genetic variants that can individually explain hyperferritinemia and/or iron overload suggesting the existence of other genetic defects or gene-gene and gene-environment interactions needing further studies.

Keyphrases

genome wide
copy number
genome wide identification
newly diagnosed
ejection fraction
dna methylation
prognostic factors
gene expression
patient reported outcomes
drug delivery
cancer therapy
transcription factor
bioinformatics analysis