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

Autor: Kamoun T; Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia., Chabchoub I; Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia., Ben Ameur S; Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia. Electronic address: benameursalma@gmail.com., Kmiha S; Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia., Aloulou H; Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia., Cave H; Department of genetics, Robert-Debré university hospital, Assistance publique-Hôpitaux de Paris, 75019 Paris, France., Polak M; Paediatric endocrine unit, centre of rare endocrine diseases of growth, Necker-Enfants-Malades hospital, AP-HP, 75012 Paris, France., Hachicha M; Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia.
Jazyk: angličtina
Zdroj: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2017 May; Vol. 24 (5), pp. 453-456. Date of Electronic Publication: 2017 Mar 24.
DOI: 10.1016/j.arcped.2017.02.021
Abstrakt: 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.
(Copyright © 2017 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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