Permanent neonatal diabetes caused by abnormalities in chromosome 6q24

2017 ◽  
Vol 34 (12) ◽  
pp. 1800-1804 ◽  
Author(s):  
B. Y. Cao ◽  
C. X. Gong ◽  
D. Wu ◽  
X. Q. Li
Keyword(s):  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Chromosome 6Q24

scholarly journals Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation

Diabetologia ◽  
2021 ◽  
Author(s):  
Dario Iafusco ◽  
Angela Zanfardino ◽  
Alessia Piscopo ◽  
Francesca Casaburo ◽  
Angelica De Nigris ◽  
...  
Keyword(s):  
Case Report ◽  
Coeliac Disease ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Secondary Failure

Permanent neonatal diabetes mellitus: Epidemiology, mode of presentation, pathogenesis and growth

1999 ◽  
Vol 66 (3) ◽  
pp. 363-373 ◽  
Author(s):  
Ashraf T. Soliman ◽  
Mahmoud M. ElZalabany ◽  
Bhasker Bappal ◽  
Issa AlSalmi ◽  
Vasantha de Silva ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus ◽  
Mode Of Presentation

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

Diabetologia ◽  
2002 ◽  
Vol 45 (2) ◽  
pp. 290-290 ◽  
Author(s):  
A. L. Gloyn ◽  
S. Ellard ◽  
J. P. Shield ◽  
I. K. Temple ◽  
D. J. G. Mackay ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Common Cause

An adult patient with permanent neonatal diabetes successfully discontinued insulin therapy after initiating sitagliptin added to sulphonylurea

2021 ◽  
Author(s):  
Ayaka Oshiro ◽  
Toshiaki Ohkuma ◽  
Wakako Sakamoto ◽  
Yuji Komorita ◽  
Yutaro Oku ◽  
...  
Keyword(s):  
Insulin Therapy ◽  
Adult Patient ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes

scholarly journals Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2: Patient Characteristics and Initial Response to Sulfonylurea Therapy

Diabetes ◽  
2004 ◽  
Vol 53 (10) ◽  
pp. 2713-2718 ◽  
Author(s):  
J. V. Sagen ◽  
H. Raeder ◽  
E. Hathout ◽  
N. Shehadeh ◽  
K. Gudmundsson ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
Initial Response ◽  
Patient Characteristics ◽  
Permanent Neonatal Diabetes

scholarly journals Duplication 6q24: More Than Just Diabetes

2020 ◽  
Vol 4 (5) ◽  
Author(s):  
Rachel H Gore ◽  
Maria Eleni Nikita ◽  
Paula G Newton ◽  
Rebecca G Carter ◽  
Jeanine Reyes-Bautista ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Uniparental Disomy ◽  
Clinical Importance ◽  
Neonatal Diabetes ◽  
Increased Risk ◽  
Chromosome 6Q24 ◽  
History Of ◽  
Transient Neonatal Diabetes ◽  
Neonatal Hyperglycemia ◽  
Methylation Patterns

Abstract Chromosome 6q24-related transient neonatal diabetes mellitus is characterized by intrauterine growth restriction and low birth weight, with neonatal hyperglycemia resolving by 18 months and an increased risk for type 2 diabetes in adulthood. Molecularly, it is caused by overexpression of the 6q24 imprinted chromosomal region due to a duplication, uniparental disomy, or abnormal methylation. Conventional testing for this condition analyzes methylation patterns at the 6q24 locus but does not evaluate for the presence of other surrounding chromosomal abnormalities. We report a female with a history of neonatal hyperglycemia due to a paternally inherited duplication at chromosomal location 6q24. She subsequently presented to the pediatric genetics clinic at 15 months of age with developmental delay and abnormal balance. Microarray analysis identified a larger 14 Mb chromosomal duplication from 6q24 to 6q25.2, consistent with a diagnosis of duplication 6q syndrome. This case highlights the clinical importance of pursuing further genetic evaluation in patients diagnosed with chromosome 6q24-related neonatal hyperglycemia via targeted methylation-specific multiplex ligation-dependent probe amplification analysis identifying a duplication in this region. Early identification and intervention can improve developmental outcomes for patients with larger chromosome 6q duplications.

scholarly journals Early insulin therapy prevents beta cell loss in a mouse model for permanent neonatal diabetes (Munich Ins2 C95S)

Diabetologia ◽  
2011 ◽  
Vol 55 (2) ◽  
pp. 382-391 ◽  
Author(s):  
S. Kautz ◽  
L. van Bürck ◽  
M. Schuster ◽  
E. Wolf ◽  
R. Wanke ◽  
...  
Keyword(s):  
Mouse Model ◽  
Beta Cell ◽  
Insulin Therapy ◽  
Neonatal Diabetes ◽  
Cell Loss ◽  
Permanent Neonatal Diabetes
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