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ACTA ENDOCRINOLOGICA (BUC)
The International Journal of Romanian Society of Endocrinology / Registered in 1938in Web of Science Master Journal List
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Acta Endocrinologica (Buc)
Arslanoglu I, Eroz R, Yavuzyilmaz F, Dogan M, Bolu S, Karaca S
Variations in Monogenic Diabetes and Diabetes Susceptibility Genes in Pediatric Cases: Single Center Experience
Acta Endo (Buc) 2023, 19 (4): 512-522doi: 10.4183/aeb.2023.512
Context. Diabetes is a chronic disorder with a
complex pathogenetic background including monogenic,
polygenic, and environmental causes.
Objective. The aim of the present paper is to share
the information related to genetic and clinical data of large
pediatric diabetes cohort.
Design. The present study retrospectively analyzes
genetic and clinical findings of subjects diagnosed with
diabetes under the age of 18 year and are in follow-up in a
pediatric diabetes referral center.
Subjects and Methods. Out of 1205 children with
diabetes (902 treated with insulin) 246 underwent genetic
tests on the basis of clinical selection criteria since 2007.
Results. One hundred and ten variants related to
diabetes were found in 89 of them. Age at presentation was
9.5±4.02 years (F/M 44/45). In total 49 pathogenic and likely
pathogenic, 11 “hot and warm” of unknown significance
variants were found in fourteen MODY and fifteen non-
MODY genes according to criteria developed by American
College of Medical Genetics. Thirty novel mutations were
found. GCK (26.6%) and ABCC8 (10%) were two most
frequently affected genes. Antibody testing revealed negative
results in 80% of cases.
Conclusions. Genetic interpretation in selected
cases is important to understand the nature of the disease
better. Improvement in testing opportunity and awareness
might increase the prevalence of genetically explained
diabetes cases. The distribution of subtypes differs between
countries and even regions of the same country.
Keywords: genetics, maturity-onset diabetes of the
young, monogenic diabetes, next-generation sequencing,
child.
Correspondence: Semih Bolu MD, Pediatric Endocrinology, Bolu Abant Izzet Baysal University Gölköy Campus 14030 - Center /
Bolu, 14030, Turkey, E-mail: semihbolu@gmail.com.