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20-09-2023 | Maturity-Onset Diabetes of the Young | Case Report

An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?

Authors: Daniela Lucchesi, Emioli Randazzo, Stefano Del Prato, Cristina Bianchi

Published in: Acta Diabetologica | Issue 1/2024

Abstract

Maturity Onset Diabetes of the Young (MODY) is a monogenic autosomal dominant disorder affecting 1-5 % of all patients with diabetes mellitus. In Caucasians, GCK and HNF1A mutations are the most common cause of MODY. Here, we report two family members carrying a genetic variant of both GCK and HNF1A gene and their nine year clinical follow-up. Our report urges physicians to be cautious when variants in two genes are found in a single patient and suggests that collaboration with MODY genetics experts is necessary for correct diagnosis and treatment.

Anık A, Çatlı G, Abacı A, Böber E (2015) Maturity-onset diabetes of the young (MODY): an update. J Pediatr Endocrinol Metab 28(3–4):251–263. https://doi.org/10.1515/jpem-2014-0384CrossRefPubMed

Tinto N, Zagari A, Capuano M, De Simone A, Capobianco V, Daniele G, Giugliano M, Spadaro R, Franzese A, Sacchetti L (2008) Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from south Italy. PLoS ONE 3:e1870. https://doi.org/10.1371/journal.pone.0001870CrossRefPubMedPubMedCentral

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Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30CrossRefPubMedPubMedCentral

Iafusco F, Maione G, Mazzaccara C, Di Candia F, Mozzillo E, Franzese A, Tinto N (2021) Analysis revealed digenic heterozygous GCK and HNF1A variants in a child with mild hyperglycemia: a case report. Diagnostics (Basel) 11:1164. https://doi.org/10.3390/diagnostics11071164CrossRefPubMed

Title: An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?
Authors: Daniela Lucchesi
Emioli Randazzo
Stefano Del Prato
Cristina Bianchi
Publication date: 20-09-2023
Publisher: Springer Milan
Keywords: Maturity-Onset Diabetes of the Young
Hereditary Disease
Hyperglycemia
Molecular Genetics
Endocrinology
Published in: Acta Diabetologica / Issue 1/2024
Print ISSN: 0940-5429
Electronic ISSN: 1432-5233
DOI: https://doi.org/10.1007/s00592-023-02171-3

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