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Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations

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dc.contributor.authorGÜNEY, AHMET İLTER
dc.contributor.authorsAtes, Esra Arslan; Ustay, Ozlem; Polat, Hamza; Apaydin, Tugce; Elbasan, Onur; Yildirim, Ozlem; Guney, Ahmet Ilter
dc.date.accessioned2022-03-14T09:51:40Z
dc.date.available2022-03-14T09:51:40Z
dc.date.issued2021-09-22
dc.description.abstractBackground: 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 autosomal-dominant 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.
dc.identifier.doi10.5152/balkanmedj.2021.20155
dc.identifier.eissn2146-3131
dc.identifier.issn2146-3123
dc.identifier.pubmed34462253
dc.identifier.urihttps://hdl.handle.net/11424/243360
dc.identifier.wosWOS:000700853600004
dc.language.isoeng
dc.publisherAVES
dc.relation.ispartofBALKAN MEDICAL JOURNAL
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGLUCOKINASE
dc.titleGenetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations
dc.typearticle
dspace.entity.typePublication
local.avesis.id38549e54-f261-43a1-946a-8d78d4b1e209
local.import.packageSS16
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.indexed.atTRDIZIN
local.journal.numberofpages6
oaire.citation.endPage277
oaire.citation.issue5
oaire.citation.startPage272
oaire.citation.titleBALKAN MEDICAL JOURNAL
oaire.citation.volume38
relation.isAuthorOfPublicationd474fc8a-ae88-487e-b63b-7f506191fb94
relation.isAuthorOfPublication.latestForDiscoveryd474fc8a-ae88-487e-b63b-7f506191fb94

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