What question did this study set out to answer?

This study investigates novel non-coding variants in the EPO gene associated with hereditary erythrocytosis.

Characterization of a Newly Discovered Non‐Coding Variant in the EPO Gene Identified in Two Unrelated Italian Pedigrees With Erythrocytosis

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Case reports characterize novel EPO gene variants linked to erythrocytosis in two families, suggesting new diagnostic avenues.

This study investigates novel non-coding variants in the EPO gene associated with hereditary erythrocytosis.
Clinical DNA exome sequencing was performed on affected individuals from two unrelated families.
Genetic variants were identified and analyzed using next-generation sequencing technology.
Variants were confirmed through Sanger sequencing and classified according to ACMG criteria.
The identified EPO c.14-28T>C variant was found in six subjects from two families with erythrocytosis.
Three out of six patients displayed low serum EPO levels, challenging previous assumptions about EPO diagnostics.
No additional erythrocytosis-related mutations were found in family members tested, indicating the specificity of the EPO variant.

Mora et al. (2026) studied this question.

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