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A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes
 
 
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10.3390/life11080771
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Article

A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases

by
Zsolt Gaál
1,
Zsuzsanna Szűcs
2,
Irén Kántor
3,
Andrea Luczay
4,
Péter Tóth-Heyn
4,
Orsolya Benn
5,
Enikő Felszeghy
6,
Zsuzsanna Karádi
5,
László Madar
2 and
István Balogh
2,*
1
4th Department of Medicine, Jósa András Teaching Hospital, 4400 Nyíregyháza, Hungary
2
Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
3
Department of Pediatrics, Jósa András Teaching Hospital, 4400 Nyíregyháza, Hungary
4
1st Department of Pediatrics, Semmelweis University, 1085 Budapest, Hungary
5
Department of Pediatrics, Szent György Hospital of Fejér County, 8000 Székesfehérvár, Hungary
6
Department of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
*
Author to whom correspondence should be addressed.
Life 2021, 11(8), 771; https://doi.org/10.3390/life11080771
Submission received: 29 June 2021 / Revised: 20 July 2021 / Accepted: 27 July 2021 / Published: 30 July 2021
(This article belongs to the Special Issue The Increasing Role of Next Generation Sequencing Methods in Mutation Analysis)
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Abstract

MODY2 is caused by heterozygous inactivating mutations in the glucokinase (GCK) gene that result in persistent, stable and mild fasting hyperglycaemia (5.6–8.0 mmol/L, glycosylated haemoglobin range of 5.6–7.3%). Patients with GCK mutations usually do not require any drug treatment, except during pregnancy. The GCK gene is considered to be responsible for about 20% of all MODY cases, transcription factors for 67% and other genes for 13% of the cases. Based on our findings, GCK and HNF1A mutations together are responsible for about 90% of the cases in Hungary, this ratio being higher than the 70% reported in the literature. More than 70% of these patients have a mutation in the GCK gene, this means that GCK-MODY is the most prevalent form of MODY in Hungary. In the 91 index patients and their 72 family members examined, we have identified a total of 65 different pathogenic (18) and likely pathogenic (47) GCK mutations of which 28 were novel. In two families, de novo GCK mutations were detected. About 30% of the GCK-MODY patients examined were receiving unnecessary OAD or insulin therapy at the time of requesting their genetic testing, therefore the importance of having a molecular genetic diagnosis can lead to a major improvement in their quality of life.
Keywords: MODY2; GCK-MODY; GCK mutations; Hungary MODY2; GCK-MODY; GCK mutations; Hungary

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MDPI and ACS Style

Gaál, Z.; Szűcs, Z.; Kántor, I.; Luczay, A.; Tóth-Heyn, P.; Benn, O.; Felszeghy, E.; Karádi, Z.; Madar, L.; Balogh, I. A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. Life 2021, 11, 771. https://doi.org/10.3390/life11080771

AMA Style

Gaál Z, Szűcs Z, Kántor I, Luczay A, Tóth-Heyn P, Benn O, Felszeghy E, Karádi Z, Madar L, Balogh I. A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. Life. 2021; 11(8):771. https://doi.org/10.3390/life11080771

Chicago/Turabian Style

Gaál, Zsolt, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, and István Balogh. 2021. "A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases" Life 11, no. 8: 771. https://doi.org/10.3390/life11080771

APA Style

Gaál, Z., Szűcs, Z., Kántor, I., Luczay, A., Tóth-Heyn, P., Benn, O., Felszeghy, E., Karádi, Z., Madar, L., & Balogh, I. (2021). A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. Life, 11(8), 771. https://doi.org/10.3390/life11080771

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