hrp0086p1-p235 | Diabetes P1 | ESPE2016

The Genetic Causes and Phenotypic Characteristics of Egyptian Patients with Neonatal Diabetes Mellitus

Elkaffas Rasha , Musa Noha , Franco Elisa De , Madani Hanan A , Shaalan Yomna , El-Kaffas Rania M.H. , Hassan Mona , Hafez Mona , Kholi Badawy El , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Background: Neonatal Diabetes Mellitus (NDM) is a rare form of monogenic diabetes that typically presents during the first 6 months of life. Its prevalence is about 1:100 000 live births; however it may rise up to 1:29 000 in highly consanguineous populations. Mutations in 22 different genes are reported; with the most common cause being potassium channel subunit gene (KCNJ11/ABCC8) mutations. However, causative mutations among consanguineous populations seem to diffe...