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Updated: Sep 18, 2025
Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
Published on: March 29, 2017
Next Generation Sequencing Allows Identification of a Novel Mutation in the TfR2 Gene and Outperforms the
Miriam Longo1, Erika Paolini1, Marica Meroni1
1Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
Introduction:
Type 3 hereditary hemochromatosis (HH) is a rare genetic disease due to mutations in the transferrin receptor 2 (TFR2) gene.
Methods And Results:
Here, we describe the case of an Italian patient presenting with hyperferritinemia and hepatic iron accumulation, not evidenced by magnetic resonance imaging, that was subsequently classified as HH Type 3 by the identification of the novel frameshift mutation c.523_524delC>T (p. Leu175Aspfs*41) in exon 4 of TFR2 gene through the whole exome sequencing (WES) approach.
Conclusion:
WES would allow to diagnose rare HH-related diseases in patients with unexplained hepatic iron overload and/or aberrant circulating iron parameters.
Trial Registration:
The authors have confirmed clinical trial registration is not needed for this submission.
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