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

Autor: Istvan Balogh, László Madar, Andrea Luczay, Orsolya Benn, Zsuzsanna Szűcs, Enikő Felszeghy, Irén Kántor, Zsuzsanna Karádi, Zsolt Gaál, Péter Tóth-Heyn
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Life
Volume 11
Issue 8
Life, Vol 11, Iss 771, p 771 (2021)
ISSN: 2075-1729
DOI: 10.3390/life11080771
Popis: 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.
Databáze: OpenAIRE
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