A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus

Heterozygous 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...

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Published in:Turk Pediatri Arsivi 2020, Vol.55 (4), p.434-437
Main Authors: Bolu, Semih, Eröz, Recep, Doğan, Mustafa, Arslanoğlu, İlknur, Uzun, Hakan, Timur, Furkan
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Case Report / Olgu Sunumu
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container_title Turk Pediatri Arsivi
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creator Bolu, Semih
Eröz, Recep
Doğan, Mustafa
Arslanoğlu, İlknur
Uzun, Hakan
Timur, Furkan
description Heterozygous 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 (
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title A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus
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