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hrp0084fc3.3 | Diabetes | ESPE2015

Clinical Characteristics and Molecular Genetic Analysis of Six Patients with Pancreas Aplasia and Neonatal Diabetes: Predominance of PTF1A-Enhancer Mutations

Raile Klemens , Gong Maolian , Spagnoli Francesca , Chen Wei , Hummel Oliver , Darendeliler Feiza , Bober Ece , Abaci Ayhan , Krill Winfried , Thiel Susanne , Kuhnen Peter , Hussain Khalid

Background: Pancreas aplasia (PA) and neonatal diabetes mellitus (NDM) syndrome is a rare disease that usually presents in the 1st months of life.Objective and hypotheses: We aimed to characterize molecular genetic defects in a cohort of six NDM/PA patients with up-to-date unknown pathogenesis with optimum genetic testing.Method: As part of our ESPE-RU-project Understanding the molecular basis of diabetes mellitus associated ...

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hrp0086ha1 | KCNQ1 Mutations Cause Both Neonatal Diabetes and Hyperinsulinemic Hypoglycaemia of Infancy | ESPE2016

KCNQ1 Mutations Cause Both Neonatal Diabetes and Hyperinsulinemic Hypoglycaemia of Infancy

Liang Lei , Jia Shiqi , Frohler Sebastian , Kuhnen Peter , Blankenstein Oliver , Krill Winfried , Khodaverdi Semik , Cao Aidi , Hummel Oliver , Elbarbary Nancy , Hussain Khalid , Voelkl Jacob , Chen Wei , Gong Maolian , Raile Klemens

Background: Mutations in genes involved in insulin secretion or regulation of β cell identity cause both persistent neonatal diabetes (PND) and hyperinsulinemic hypoglycemia of infancy (HHI) pinpointing shared pathogenic mechanisms. KCNQ1 encodes a potassium channel protein, Kv7.1, which is a voltage-gated potassium channel expressed in cardiac tissue, pancreas, inner ear neurons, and other tissues. Variants in or nearby to KCNQ1 were linked t...

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ESPE Abstracts

Clinical Characteristics and Molecular Genetic Analysis of Six Patients with Pancreas Aplasia and Neonatal Diabetes: Predominance of PTF1A-Enhancer Mutations

KCNQ1 Mutations Cause Both Neonatal Diabetes and Hyperinsulinemic Hypoglycaemia of Infancy

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