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...

Full description

Saved in:
Bibliographic Details
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
Format: Article
Language:English
Subjects:
Case Report / Olgu Sunumu
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 (
ISSN:1306-0015
1308-6278
DOI:10.14744/TurkPediatriArs.2019.05882