Semih Bolu, RECEP EROZ, Mustafa Doğan, İlknur Arslanoğlu, Hakan Uzun, Furkan Timur

Kalıcı neonatal diabetes mellitusun nadir bir nedeni olan glukokinaz geninde yeni homozigot delesyon mutasyonu saptanan aile (c.1255delT; p.Phe419Serfs * 12

Glukokinaz genindeki heterozigot inaktive edici mutasyonlar, gençlik te ortaya çıkan erişkin tip diyabetin en hafif formuna neden olur. Bu nunla birlikte, glukokinaz genindeki homozigot veya bileşik heterozi got mutasyonların kalıcı neonatal diabetes mellitusun nadir bir nedeniolduğu gösterilmiştir. Burada, mutasyon analizi glukokinaz genindeyeni bir homozigot silme mutasyonunu ortaya koyan kalıcı neonataldiabetes mellituslu bir erkek çocuk olgusunu sunuyoruz. Aralarındaakrabalık olan Türk anne- babanın erkek çocuğu 37. gebelik haftasında1870 gr (

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

PDF

___

1. Støy J, Greeley SA, Paz VP, et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes 2008; 9: 450–9.
2. Iafusco D, Massa O, Pasquino B, et al; Early Diabetes Study Group of ISPED. Minimal incidence of neonatal/ infancy onset diabetes in Italy is 1:90,000 live births. Acta Diabetol 2012; 49: 405–8.
3. Slingerland AS, Shields BM, Flanagan SE, et al. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia 2009; 52: 1683–5.
4. Ellard S, Lango Allen H, De Franco E, et al. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia 2013; 56: 1958–63.
5. Rubio-Cabezas O, Patch AM, Minton JA, et al. WolcottRallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab 2009; 94: 4162–70.
6. Gloyn AL, Ellard S, Shield JP, et al. Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia 2002; 45: 290.
7. McCarthy MI, Hattersley AT. Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes 2008; 57: 2889–98.
8. Habeb AM, Flanagan SE, Deeb A, et al. Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans. Arch Dis Child 2012; 97: 721–3.
9. Demirbilek H, Arya VB, Ozbek MN, et al. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. Eur J Endocrinol 2015; 172: 697–705.
10. Habeb AM, Al-Magamsi MS, Eid IM, et al. Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes 2012; 13: 499–505.