TY  - JOUR
TI  - Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations
AB  - Background: Maturity-onset diabetes of the young (MODY) is a rare monogenic type of diabetes, and accounts for 2-5% of all diabetes cases. An early age of onset, a family history supporting autosomaldominant inheritance, insulin resistance, and the absence of autoimmunity are the major characteristics of MODY. However, genetic testing is crucial for diagnosis. Aims: To investigate the 7 MODY-related genes and clinical findings of patients with a preliminary clinical diagnosis of MODY. Study Design: Retrospective cross-sectional study. Methods: In this study, 7 genes (KCNJ11, ABCC8, INS, GCK, HNF4A, HNF1A, and HNF1B) related to MODY were screened via targeted sequencing in 182 cases with a confirmed pre-diagnosis of MODY. The clinical characteristics of the patients were evaluated retrospectively. Results: A total of 182 patients, 48% of whom were women, between the ages of 18-62 were included in the study. In 30 cases (16.4%), 28 different pathogenic variations were found, of which 20 were previously reported and 8 were novel variations segregated by disease within the family. Pathogenic variations were detected in the following genes in order of mutation frequency; GCK, HNF1A, ABCC8, HNF4A, HNF1B and KCNJ11. Interestingly, six of the 30 cases (20%) carried a pathogenic variation in the ABCC8 gene. No mutation was detected in the INS gene. A family history of vertically transmitted diabetes and elevated HbA1C at the time of diagnosis were found in 20 (66%) and 16 (52%) cases, respectively. Conclusion: In this series, 28 different pathogenic variations are identified, 8 of which are novel. The rate of pathogenic variation in the ABCC8 gene is unexpectedly high. Two-thirds of cases have a family history of vertically transmitted diabetes.
AU  - USTAY, Ozlem
AU  - YILDIRIM, ÖZLEM
AU  - Polat, Hamza
AU  - Arslan Ates, Esra
AU  - apaydin, tugce
AU  - Elbasan, Onur
AU  - Güney, Ahmet İlter
DO  - 10.5152/balkanmedj.2021.20155
PY  - 2021
JO  - Balkan Medical Journal
VL  - 38
IS  - 5
SN  - 2146-3123
SP  - 272
EP  - 277
DB  - TRDizin
UR  - http://search/yayin/detay/481614
ER  -