TY  - JOUR
TI  - Genetic diagnosis of maturity-onset diabetes of the young
(MODY) in northeast Turkey
AB  - Aim: Maturity-onset diabetes of the young (MODY) is a group of monogenic diabetes
mellitus with autosomal dominant inheritance, usually present in adolescence or young
adulthood, resulting from beta cell dysfunction. To date, 14 genes have been identified for
the majority of all MODY cases. The correct MODY diagnosis is important for appropriate
treatment and improvement of the patients’ life quality. Despite various strategies in
clinical assessment, molecular genetic studies are required for the definitive diagnosis of
MODY. The aim of this study wasto define MODY gene mutations in the northeastern
part of Turkey and contribute to the mutational spectrum of MODY. Also, the importance
of molecular diagnosis of MODY and testing strategies were discussed.
Material and Methods: In this study sequencing analyses of MODY-related genes
were performed using next generation sequencing (NGS) platform in 46 unrelated Turkish
patients.
Results: Disease causing variant was found in 30.4% (n=14) of the patients. Ten different
variants were detected in 14 patients. Nine variants in GCK, one in HNF1A genes were
found and six mutations were novel among them.
Conclusion: Mutations in the GCK gene are the leading cause of MODY in Turkish
population. Besides, six novel mutations were identified which were enriches mutation
spectrum of GCK gene and contributes to genotype-phenotype correlation of MODY.
Also, we suggest that NGS is a practical and useful tool in the first step of genetic analysis
AU  - CEBI, ALPER HAN
AU  - YARAR, Murat Hakkı
AU  - ÇELİK, Said
AU  - Altıner, Şule
DO  - 10.5455/annalsmedres.2021.05.409
PY  - 2022
JO  - Annals of Medical Research
VL  - 29
IS  - 4
SN  - 2636-7688
SP  - 325
EP  - 328
DB  - TRDizin
UR  - http://search/yayin/detay/517819
ER  -