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

Edip Unal; Ruken Yıldırım; Funda Feryal Taş; Süleyman Yıldız; Vasfiye Demir; Yusuf Kenan Haspolat

doi:10.28982/josam.515839

Authors

Edip Unal https://orcid.org/0000-0002-9809-0977
Ruken Yıldırım https://orcid.org/0000-0002-9558-3856
Funda Feryal Taş https://orcid.org/0000-0003-2438-0602
Süleyman Yıldız https://orcid.org/0000-0002-3117-2345
Vasfiye Demir https://orcid.org/0000-0003-0985-4259
Yusuf Kenan Haspolat https://orcid.org/0000-0003-1930-9721

DOI:

https://doi.org/10.28982/josam.515839

Keywords:

ATP-sensitive potassium channel, Neonatal diabetes, ABCC8 gene

Abstract

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.

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