Edip UNAL, Ruken YILDIRIM, Funda Feryal TAŞ, Süleyman YILDIZ, Vasfiye DEMİR, Yusuf Kenan HASPOLAT

ABCC8 geninde yeni bir mutasyonun neden olduğu geçici neonatal diyabet

Neonatal diyabet, yaşamın ilk altı ayında ortaya çıkan ve diyabetin nadir görülen monojenik bir formudur. Genel olarak geçici ve kalıcı diye iki gruba ayrılır. Geçici neonatal diyabetli olguların %70’inden kromozom 6q24 lokusun genetik ve epigenetik anomaliler sorumludur. Bu olgularda makroglossi, umlikal herni, kardiyak ve renal anomali sıklığı artmıştır. ATP duyarlı potasyum kanallarının iki protein alt birimini (SUR1 ve Kir6.2) kodlayan genlerdeki (ABCC8 ve KCNJ11) mutasyonlar geçici neonatal diyabetin ikinci sık nedenini oluşturmaktadır. Bu yazıda konjenital anomalilerin eşlik etmediği, 3.5 aylık bir hastada ABCC8 geninde yeni saptanan ve geçici neonatal diyabete yol açan homozigot missense mutasyonlu (DNA tanımlaması: c1456>T) bir olgu sunulmuştur.

Anahtar Kelimeler:

Neonatal diabet, ATP duyarlı K kanalı, ABCC8 geni

Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene

Neonatal diabetes mellitus is a rare monogenic form of diabetes that develops in the first 6 months of life. Neonatal diabetes mellitus is commonly divided in two groups as transient and permanent. Genetic and epigenetic anomalies of chromosome 6q24 locus are responsible for 70% of transient neonatal diabetes mellitus cases. Incidence of macroglossia, umbilical hernia, cardiac and renal anomalies is increased in transient neonatal diabetes mellitus patients. Mutations in the genes (ABCC8 and KCNJ11) encoding two protein subunits (SUR1 and Kir6.2) of ATP-sensitive potassium channels constitute the second common cause of transient neonatal diabetes mellitus. In this article, we present a case with homozygous missense mutation (DNA expression: c1456> T), which was found in the ABCC8 gene in a 3.5-month-old patient with no congenital anomalies, leading to transient neonatal diabetes mellitus.

Keywords:

ATP-sensitive potassium channel, Neonatal diabetes, ABCC8 gene,

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