Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

G6PD Potenza: A Novel Pathogenic Variant Broadens the Mutational Landscape in the Italian Population

Claudio Ricciardi Tenore
,
Eugenia Tulli
,
Claudia Calo
,
Roberto Bertozzi
,
Jessica Evangelista
,
Giulia Maneri
,
Martina Rinelli
,
Francesca Brisighelli
,
Alessia Perrucci
,
Elisa De Paolis
,
Andrea Urbani
,
Maria De Bonis
,
Angelo Minucci
* ORCID logo
Version 1 : Received: 5 September 2024 / Approved: 5 September 2024 / Online: 5 September 2024 (08:20:55 CEST)

How to cite: Ricciardi Tenore, C.; Tulli, E.; Calo, C.; Bertozzi, R.; Evangelista, J.; Maneri, G.; Rinelli, M.; Brisighelli, F.; Perrucci, A.; De Paolis, E.; Urbani, A.; De Bonis, M.; Minucci, A. G6PD Potenza: A Novel Pathogenic Variant Broadens the Mutational Landscape in the Italian Population. Preprints 2024, 2024090406. https://doi.org/10.20944/preprints202409.0406.v1 Ricciardi Tenore, C.; Tulli, E.; Calo, C.; Bertozzi, R.; Evangelista, J.; Maneri, G.; Rinelli, M.; Brisighelli, F.; Perrucci, A.; De Paolis, E.; Urbani, A.; De Bonis, M.; Minucci, A. G6PD Potenza: A Novel Pathogenic Variant Broadens the Mutational Landscape in the Italian Population. Preprints 2024, 2024090406. https://doi.org/10.20944/preprints202409.0406.v1

Abstract

Background: G6PD is a rate-limiting enzyme of the pentose phosphate pathway. The loss of G6PD activity in red blood cells exposes to the risk of acute haemolytic anaemia under oxidative stress, induced by infections, some medications, or fava beans. More than 200 single missense mutations are known in the G6PD gene. This study reports a 41-year-old woman coming from Basilicata region (Italy) that carried out the G6PD status in our hospital for prenatal investiga-tions. Methods: DNA was extracted from peripheral blood sample and genotyped for common-est G6PD pathogenic variants (PVs). Positive results obtained by Restriction Fragment Length Polymorphism (RFLP), as per practice in our laboratory, are then re-confirmed in Sanger se-quencing. Results: RFLP analysis highlighted a variant compatible with G6PD Cassano variant. Confirmatory testing by Sanger unexpectedly identified a novel variant: c.1357G>A, p.(Val453Met) (NM_001360016.2). In silico models predicted a deleterious effect of this variant at the protein level. The novel G6PD variant was named "G6PD Potenza", on the basis of the pa-tient's regional origin. Conclusion: This case describes a novel G6PD variant. It also highlights how the Sanger sequencing technique still represents an indispensable confirmatory standard method for variants that could be miss-interpreted by using of “first-level” approached, as the RFLP. We stress that the evaluation of clinical manifestations in G6PD deficient patients is of primary importance for the classification of each new G6PD mutation, in agreement with the new WHO guidelines.

Keywords

G6PD Potenza; Sanger Sequencing; G6PD deficiency; RFLP; Italian population

Subject

Public Health and Healthcare, Public Health and Health Services

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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