The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
Sinem YalcintepeFatma Özgüç ÇömlekHakan GurkanSelma DemirEmine İkbal AtlıEngin AtliDamla EkerFiliz Tütüncüler KökenliPublished in: Journal of clinical research in pediatric endocrinology (2021)
This is the first study including molecular studies of twenty monogenic diabetes genes in Turkish cases in the Trakya Region. The results showed that pathogenic variants in the GCK gene are the leading cause of MODY in our population. A high frequency of novel variants (32.4%-12/37) in the current study, suggests that multiple gene analysis provides accurate genetic diagnosis in MODY.
Keyphrases
- copy number
- genome wide
- high frequency
- type diabetes
- genome wide identification
- cardiovascular disease
- end stage renal disease
- dna methylation
- ejection fraction
- glycemic control
- chronic kidney disease
- newly diagnosed
- high resolution
- prognostic factors
- adipose tissue
- transcription factor
- patient reported outcomes
- weight loss
- case control