Abstract
Objective: Permanent neonatal diabetes mellitus (PNDM) is a rare heterogeneous form of diabetes that develops within the first 6 months of life. The objective of this study is to define the genetic etiology and incidence of permanent neonatal diabetes mellitus in Jordan.
Methods: This study was conducted in Jordan at the National Center of Diabetes, Endocrinology and Genetics, Amman, between 2006 and 2012. The study included 22 cases diagnosed with diabetes within the first year of life.
Results: The incidence of PNDM in Jordan was calculated as one case for every 203,221 live births. Mutations were found in six out of ten cases diagnosed before 6 months and included one homozygous ABCC8 p.R826W mutation, three cases with a heterozygous KCNJ11 p.R201C mutation, and two cases with a homozygous EIF2AK3 splicing mutation.
Conclusion: The genetic etiology of PNDM in Jordan is different from that seen in European countries and more similar to other Arab countries.
Acknowledgments
We appreciate Ms. Khadijah Al-Rashed for her great help and assistance with the manuscript and data collection. We thank Dr. D.J.G. Mackay and colleagues, in the Faculty of Medicine, University of Southampton, Southampton, UK, who performed the genetic testing for chromosome 6q24 abnormalities. Professor Sian Ellard is a Wellcome Trust Senior Investigator.
Conflict of interest statement
The authors declare that they have no competing interests.
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The online version of this article (DOI: 10.1515/jpem-2014-0069) offers supplementary material, available to authorized users.
©2014 by De Gruyter
