Variations in monogenic diabetes and diabetes susceptibility genes in pediatric cases: single center experience

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dc.contributor.authorArslanoglu, I.
dc.contributor.authorEroz, R.
dc.contributor.authorYavuzyilmaz, F.
dc.contributor.authorDogan, M.
dc.contributor.authorBolu, S.
dc.contributor.authorKaraca, S.
dc.date.accessioned2024-08-23T16:03:28Z
dc.date.available2024-08-23T16:03:28Z
dc.date.issued2023en_US
dc.departmentDüzce Üniversitesien_US
dc.description.abstractContext. 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 nonMODY 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.en_US
dc.identifier.doi10.4183/aeb.2023.512
dc.identifier.endpage522en_US
dc.identifier.issn1841-0987
dc.identifier.issn1843-066X
dc.identifier.issue4en_US
dc.identifier.pmid38933241en_US
dc.identifier.startpage512en_US
dc.identifier.urihttps://doi.org/10.4183/aeb.2023.512
dc.identifier.urihttps://hdl.handle.net/20.500.12684/13766
dc.identifier.volume19en_US
dc.identifier.wosWOS:001250297300016en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherEditura Acad Romaneen_US
dc.relation.ispartofActa Endocrinologica-Bucharesten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectgeneticsen_US
dc.subjectmaturity-onset diabetes of the youngen_US
dc.subjectmonogenic diabetesen_US
dc.subjectnext-generation sequencingen_US
dc.subjectchilden_US
dc.subjectChildrenen_US
dc.subjectYoungen_US
dc.subjectGuidelinesen_US
dc.subjectMutationsen_US
dc.subjectDiagnosisen_US
dc.subjectCandidateen_US
dc.subjectVariantsen_US
dc.subjectGeneticsen_US
dc.subjectTurkishen_US
dc.titleVariations in monogenic diabetes and diabetes susceptibility genes in pediatric cases: single center experienceen_US
dc.typeArticleen_US

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