Aims: Maturity-onset diabetes of the young (MODY) is an early-onset, monogenic diabetes with an autosomal dominant inheritance pattern. Single gene mutations that cause dysfunction in pancreatic beta cells are responsible for MODY etiology. In this study, we investigated the genetic variants involved in the etiopathogenesis of MODY in our region.
Methods: Between May 2018 and April 2023, 40 pediatric patients (n=25 females, n=15 males) with a clinical diagnosis of MODY were evaluated by targeted genome sequencing.
Results: Among the 40 pediatric patients included in this study, variants in MODY-associated genes were detected in 21 patients (52.5%), eight (38.09%), of which were pathogenic (38.09%), five (23.8%) were probable pathogenic, and eight (38.09%), were of uncertain significance.
Conclusion: In this study, genetic diagnostic yield (including pathogenic and likely pathogenic variants) was detected in 32.5% (13/40) patients with MODY using targeted genome sequencing analysis. This rate is consistent with other studies. However, unlike other similar studies, the MODY12 subtype was the second most frequent in our study. In addition, nine novel variants were reported, including ABCC8 (n=3), CEL (n=2), KLF11 (n=1), GCK (n=1), HNF1A (n=1), and HNF1B (n=1) genes. We have presented clinical findings to improve genotype-phenotype correlation in the literature for novel variants.
Primary Language | English |
---|---|
Subjects | Medical Genetics (Excl. Cancer Genetics) |
Journal Section | Research Articles |
Authors | |
Early Pub Date | October 26, 2023 |
Publication Date | October 27, 2023 |
Published in Issue | Year 2023 |
Üniversitelerarası Kurul (ÜAK) Eşdeğerliği: Ulakbim TR Dizin'de olan dergilerde yayımlanan makale [10 PUAN] ve 1a, b, c hariç uluslararası indekslerde (1d) olan dergilerde yayımlanan makale [5 PUAN]
- Dahil olduğumuz İndeksler (Dizinler) ve Platformlar sayfanın en altındadır.
Not: Dergimiz WOS indeksli değildir ve bu nedenle Q olarak sınıflandırılmamaktadır.
Yüksek Öğretim Kurumu (YÖK) kriterlerine göre yağmacı/şüpheli dergiler hakkındaki kararları ile yazar aydınlatma metni ve dergi ücretlendirme politikasını tarayıcınızdan indirebilirsiniz. https://dergipark.org.tr/tr/journal/3449/page/10809/update
Dergi Dizin ve Platformları
TR Dizin ULAKBİM, Google Scholar, Crossref, Worldcat (OCLC), DRJI, EuroPub, OpenAIRE, Turkiye Citation Index, Turk Medline, ROAD, ICI World of Journal's, Index Copernicus, ASOS Index, General Impact Factor, Scilit.