Gençlerin Erişkin Başlangıçlı Diyabeti (MODY) Sorumlu HNF4A, GCK ve HNF1 Gen Varyasyonlarının Dünya Genelinde Coğrafik Dağılımı

Demirci, Deniz; Gül, Nurdan; Satman, İlhan; Öztürk, Oğuz; Yilmaz-Aydogan, Hülya

doi:10.46373/hafebid.880832

Cited by 1 publication

(1 citation statement)

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“…Mutations in the HNF4A (MODY, type I), GCK (MODY, type II), and HNF1A (MODY, type III) genes are responsible for approximately 90% of MODY cases. [10][11][12] In our study, where we did not detect any pathogenic/ likely pathogenic variant in the HNF4A gene, this rate was approximately 40%. In our study, the most common GCK (MODY, type II) gene variants were observed in seven patients (n=7), including two patients (case 4, case 5) from the same family.…”

Section: Discussioncontrasting

confidence: 47%

Evaluation of variants in maturity onset of diabetes young related genes in Balıkesir region

GERİK ÇELEBİ,

DEMİRAL

2023

Anatolian Current Medical Journal

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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.

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Section: Discussioncontrasting

confidence: 47%