A family with novel homozygous deletion mutation(c.1255delT; p.Phe419Serfs*12) in the glucokinasegene, which is a rare cause of permanent neonataldiabetes mellitus

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dc.contributor.authorDoğan, Mustafa
dc.contributor.authorUzun, Hakan
dc.contributor.authorArslanoğlu, İlknur
dc.contributor.authorTimur, Furkan
dc.contributor.authorBolu, Semih
dc.contributor.authorEröz, Recep
dc.date.accessioned2023-07-26T11:51:17Z
dc.date.available2023-07-26T11:51:17Z
dc.date.issued2020
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalıen_US
dc.description.abstractHeterozygous inactivating mutations in the glucokinase gene cause the mildest form of maturity-onset diabetes of the adolescents. However, homozygous or compound heterozygous mutations in the glucokinase gene are a rare cause of permanent neonatal diabetes mellitus. Herein, we present the case of a male child with permanent neonatal diabetes mellitus whose mutational analysis revealed a novel homozygous deletion mutation in the glucokinase gene. The male proband of Turkish ancestry from consanguineous parents was born at 37 weeks gestation with a birth weight of 1870 g (<3rd percentile). Hyperglycemia developed during the first postnatal day and diabetes-related autoantibodies were negative. He was put on insulin on the first day of life. Insulin has never been discontinued since then. The mother was aged 35 years and had gestational diabetes. The father and the two brothers had impaired fasting glucose. Both parents and brothers were heterozygous for this mutation.en_US
dc.identifier.endpage437en_US
dc.identifier.issn1306-0015
dc.identifier.issn1308-6278
dc.identifier.issue4en_US
dc.identifier.startpage434en_US
dc.identifier.trdizinid407633en_US
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/407633
dc.identifier.urihttps://hdl.handle.net/20.500.12684/12530
dc.identifier.volume55en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.institutionauthorEröz, Recep
dc.institutionauthorDoğan, Mustafa
dc.institutionauthorUzun, Hakan
dc.institutionauthorArslanoğlu, İlknur
dc.institutionauthorTimur, Furkan
dc.institutionauthorBolu, Semih
dc.language.isoenen_US
dc.relation.ispartofTürk Pediatri Arşivien_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz$2023V1Guncelleme$en_US
dc.titleA family with novel homozygous deletion mutation(c.1255delT; p.Phe419Serfs*12) in the glucokinasegene, which is a rare cause of permanent neonataldiabetes mellitusen_US
dc.typeArticleen_US

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