Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Young

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dc.authoridDundar, Ismail/0000-0003-1468-6405
dc.authorwosidDundar, Ismail/AAA-2528-2021
dc.contributor.authorBolu, Semih
dc.contributor.authorEroz, Recep
dc.contributor.authorDogan, Mustafa
dc.contributor.authorArslanoglu, Ilknur
dc.contributor.authorDundar, Ismail
dc.date.accessioned2021-12-01T18:49:11Z
dc.date.available2021-12-01T18:49:11Z
dc.date.issued2020
dc.department[Belirlenecek]en_US
dc.description.abstractObjective To investigate phenotype-genotype correlations in Turkish children with glucokinase gene mutations leading to Maturity-onset diabetes in young (GCK-MODY). Methods Retrospective analysis of 40 patients (16 girls) aged under 18 with GCK-MODY. Results Mean (SD) serum fasting blood glucose level was 6.79 (0.59) mmol/L and the mean (SD) HbA1c level at diagnosis was 6.3% (0.5). Sixteen different variations were detected in the GCK genes of the 40 cases; 33 missense mutations, 6 deletions, and one nonsense mutation. The birthweight of infants with deletion mutation was significantly lower than that of infants with other mutations [2460 (353.66) g vs 2944.11 (502.08) g]. Conclusion GCK-MODY patients with deletion mutation inherited from mothers had lower birthweight and higher fasting blood glucose than those with other inherited mutations but similar HbA1c values.en_US
dc.identifier.doi10.1007/s13312-020-2032-2
dc.identifier.endpage1039en_US
dc.identifier.issn0019-6061
dc.identifier.issn0974-7559
dc.identifier.issue11en_US
dc.identifier.scopus2-s2.0-85096309947en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1037en_US
dc.identifier.urihttps://doi.org/10.1007/s13312-020-2032-2
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10678
dc.identifier.volume57en_US
dc.identifier.wosWOS:000591119000012en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSpringer Indiaen_US
dc.relation.ispartofIndian Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGestational diabetes mellitusen_US
dc.subjectNext generation sequencingen_US
dc.subjectGcken_US
dc.subjectHyperglycemiaen_US
dc.subjectIdentificationen_US
dc.subjectHeterogeneityen_US
dc.subjectPopulationen_US
dc.subjectPregnancyen_US
dc.subjectGlucoseen_US
dc.titleGenotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Youngen_US
dc.typeArticleen_US

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