scholarly journals Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosphate Channel

2004 ◽  
Vol 89 (8) ◽  
pp. 3932-3935 ◽  
Author(s):  
Anna L. Gloyn ◽  
Elizabeth A. Cummings ◽  
Emma L. Edghill ◽  
Lorna W. Harries ◽  
Rachel Scott ◽  
...  
Keyword(s):  
Adenosine Triphosphate ◽  
Neonatal Diabetes ◽  
Β Cell ◽  
Gene Encoding ◽  
Permanent Neonatal Diabetes ◽  
Germline Mosaicism ◽  
Kcnj11 Gene ◽  
Activating Mutation

scholarly journals Islet-Specific Antibody Seroconversion in Patients With Long Duration of Permanent Neonatal Diabetes Caused by Mutations in the KCNJ11 Gene

Diabetes Care ◽  
2007 ◽  
Vol 30 (8) ◽  
pp. 2080-2082 ◽  
Author(s):  
A. Gach ◽  
K. Wyka ◽  
M. T. Malecki ◽  
A. Noczynska ◽  
J. Skupien ◽  
...  
Keyword(s):  
Specific Antibody ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Long Duration ◽  
Kcnj11 Gene

Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1

2009 ◽  
Vol 76 (11) ◽  
pp. 1169-1172 ◽  
Author(s):  
C. M. Batra ◽  
Nomeeta Gupta ◽  
Gurdeep Atwal ◽  
Vimal Gupta
Keyword(s):  
Neonatal Diabetes ◽  
Gene Encoding ◽  
Abcc8 Gene ◽  
Activating Mutation ◽  
Transient Neonatal Diabetes

Sulfonylurea-insensitive permanent neonatal diabetes caused by a severe gain-of-function Tyr330His substitution in Kir6.2

2022 ◽  
Author(s):  
Conor McClenaghan ◽  
Novella Rapini ◽  
Domenico Umberto De Rose ◽  
Jian Gao ◽  
Jacob Roeglin ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Molecular Basis ◽  
Glucose Monitoring ◽  
Neonatal Diabetes ◽  
Katp Channels ◽  
Gain Of Function ◽  
Gene Encoding ◽  
Permanent Neonatal Diabetes ◽  
Mild Developmental Delay ◽  
Atp Inhibition

Background/Aims: Mutations in KCNJ11, the gene encoding the Kir6.2 subunit of pancreatic and neuronal KATP channels, are associated with a spectrum of neonatal diabetes diseases. Methods: Variant screening was used to identify cause of neonatal diabetes, and continuous glucose monitoring used to assess effectiveness of sulfonylurea treatment. Electrophysiological analysis of variant KATP channel function was used to determine molecular basis. Results: We identified a previously uncharacterized KCNJ11 mutation, c.988T>C [pTyr330His], in an Italian child diagnosed with sulfonylurea-resistant permanent neonatal diabetes and developmental delay (iDEND). Functional analysis of recombinant KATP channels reveals that this mutation causes a drastic gain-of-function, due to a reduction in ATP-inhibition. Further, we demonstrate that the Tyr330His substitution causes a significant decrease in sensitivity to the sulfonylurea, glibenclamide. Conclusions: In this subject, the KCNJ11(c.988T>C) mutation provoked neonatal diabetes, with mild developmental delay, which was insensitive to correction by sulfonylurea therapy. This is explained by the molecular loss of sulfonylurea sensitivity conferred by the Tyr330His substitution, and highlights the need for molecular analysis of such mutations.

scholarly journals Sulfonylurea Therapy in Two Korean Patients with Insulin-treated Neonatal Diabetes due to Heterozygous Mutations of the KCNJ11 Gene Encoding Kir6.2

2007 ◽  
Vol 22 (4) ◽  
pp. 616 ◽  
Author(s):  
Min Sun Kim ◽  
Sun-Young Kim ◽  
Gu-Hwan Kim ◽  
Han Wook Yoo ◽  
Dong Whan Lee ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
Gene Encoding ◽  
Korean Patients ◽  
Kcnj11 Gene

scholarly journals Successful transition to sulphonylurea therapy from insulin in a child with permanent neonatal diabetes due to a KCNJ11 gene mutation

2018 ◽  
Vol 9 (2) ◽  
pp. 65 ◽  
Author(s):  
Venkatesan Radha ◽  
Bhuvanagiri Ramya ◽  
Sundaramoorthy Gopi ◽  
Babu Kavitha ◽  
Somayajula Preetika ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Successful Transition ◽  
Kcnj11 Gene
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