Permanent neonatal diabetes mellitus in Jordan.
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.


CONCLUSIONS
The genetic etiology of PNDM in Jordan is different from that seen in European countries and more similar to other Arab countries.
Mousa A
MA
Abujbara
Mohammed I
MI
Liswi
Mohammed S
MS
El-Khateeb
Sarah E
SE
Flanagan
Sian
S
Ellard
Kamel M
KM
Ajlouni
D003920:Diabetes Mellitus / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007597:Jordan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D064233:Sulfonylurea Receptors / Q000235:genetics*; D019892:eIF-2 Kinase / Q000235:genetics*; D000099161:Kcnj11 Channel
D024661:Potassium Channels, Inwardly Rectifying; D064233:Sulfonylurea Receptors; D019892:eIF-2 Kinase; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human; C460640:EIF2AK3 protein, human