title: Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.
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.
authors.affiliation: 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.
authors.forename: T
authors.initials: T
authors.lastname: Kamoun
authors.affiliation: 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.
authors.forename: I
authors.initials: I
authors.lastname: Chabchoub
authors.affiliation: 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.
authors.forename: S
authors.initials: S
authors.lastname: Ben Ameur
authors.affiliation: 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.
authors.forename: S
authors.initials: S
authors.lastname: Kmiha
authors.affiliation: 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.
authors.forename: H
authors.initials: H
authors.lastname: Aloulou
authors.affiliation: Department of genetics, Robert-Debré university hospital, Assistance publique-Hôpitaux de Paris, 75019 Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Cave
authors.affiliation: Paediatric endocrine unit, centre of rare endocrine diseases of growth, Necker-Enfants-Malades hospital, AP-HP, 75012 Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Polak
authors.affiliation: 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.
authors.forename: M
authors.initials: M
authors.lastname: Hachicha
mesh_terms: D000293:Adolescent; D001786:Blood Glucose / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006442:Glycated Hemoglobin / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D007262:Infusions, Intravenous; D007279:Injections, Subcutaneous; D061267:Insulin Aspart / Q000008:administration & dosage; D061389:Insulin, Regular, Pork / Q000008:administration & dosage; D000068880:Isophane Insulin, Human / Q000008:administration & dosage; D008297:Male; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D012008:Recurrence; D000099161:Kcnj11 Channel
chemical_list: D001786:Blood Glucose; D006442:Glycated Hemoglobin; D061267:Insulin Aspart; D061389:Insulin, Regular, Pork; D000068880:Isophane Insulin, Human; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel; C517652:hemoglobin A1c protein, human; C000006:insulin, neutral