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Case Reports
. 2017 May;24(5):453-456.
doi: 10.1016/j.arcped.2017.02.021. Epub 2017 Mar 24.

Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings

T Kamoun  1 , I Chabchoub  1 , S Ben Ameur  2 , S Kmiha  1 , H Aloulou  1 , H Cave  3 , M Polak  4 , M Hachicha  1
Affiliations
Case Reports

Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings

T Kamoun et al. Arch Pediatr. 2017 May.

Abstract

Transient neonatal diabetes mellitus is a rare disease usually associated with chromosome 6 abnormalities. Mutations of the genes encoding the potassium channel are rarely associated with these transitional forms. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene.

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