Detection of KCNJ11 Gene Mutations in a Family with Neonatal Diabetes Mellitus

2012 ◽  
Vol 16 (2) ◽  
pp. 109-114 ◽  
Author(s):  
Farzaneh Abbasi ◽  
Sadaf Saba ◽  
Azadeh Ebrahim-Habibi ◽  
Forough A. Sayahpour ◽  
Parvin Amiri ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Kcnj11 Gene

Neonatal diabetes mellitus: the effectiveness of therapy with sulfonylurea preparations depending on the type of mutation in the KCNJ11 gene

2014 ◽  
Vol 60 (1) ◽  
pp. 57-63
Author(s):  
A O Emelyanov ◽  
T L Kuraeva ◽  
S A Prokofiev ◽  
E D Medvedeva ◽  
V A Peterkova
Keyword(s):  
Diabetes Mellitus ◽  
Potassium Channels ◽  
Beta Cells ◽  
Clinical Significance ◽  
Newborn Infants ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Metabolic Processes ◽  
Kcnj11 Gene ◽  
The Relationship

Neonatal diabetes mellitus (NDM) develops within the first 6 months of life. It occurs with a frequency of 1 cases per 300,000 - 500,000 newborn infants. Pathogenesis of NDM involves over 10 different genes. Of greatest clinical significance are mutations in KCNJII and ABCC8 genes responsible for the activity of ATP-dependent potassium channels and regulating their activation. It was shown that the intake of oral sulfonylurea (SU) preparations results in the closure of these channels and thereby stimulates the release of insulin from beta-cells. For this reason, SU therapy can be applied as an alternative to insulin injections. SU preparations ensure the efficacious control of metabolic processes and substitute insulin in the majority of the cases of transient and permanent NDM associated with mutations in KCNJII and ABCC8 genes. The original observations demonstrating the relationship between the type of mutation in the KCNJII gene and the dose of SU preparations are presented.

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

2017 ◽  
Vol 24 (5) ◽  
pp. 453-456 ◽  
Author(s):  
T. Kamoun ◽  
I. Chabchoub ◽  
S. Ben Ameur ◽  
S. Kmiha ◽  
H. Aloulou ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes Mellitus ◽  
Kcnj11 Gene ◽  
Activating Mutation ◽  
Transient Neonatal Diabetes

Insulin gene mutations linked to permanent neonatal diabetes mellitus in Indian population

2021 ◽  
pp. 108022
Author(s):  
Sundaramoorthy Gopi ◽  
Palanisamy Gowri ◽  
Jayant Kumar Panda ◽  
Santhosh Olety Sathyanarayana ◽  
Sunil Gupta ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Indian Population ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Insulin Gene ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus

scholarly journals New insights into KATP channel gene mutations and neonatal diabetes mellitus

2020 ◽  
Vol 16 (7) ◽  
pp. 378-393 ◽  
Author(s):  
Tanadet Pipatpolkai ◽  
Samuel Usher ◽  
Phillip J. Stansfeld ◽  
Frances M. Ashcroft
Keyword(s):  
Diabetes Mellitus ◽  
Katp Channel ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Channel Gene

Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia

2011 ◽  
Vol 57 (2) ◽  
pp. 3-8
Author(s):  
I I Dedov ◽  
Iu V Tikhonovich ◽  
Elena E Petriaikina ◽  
I G Rybkina ◽  
I É Volkov ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Pancreatic Beta Cells ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Molecular Genetic Analysis ◽  
Neonatal Diabetes Mellitus ◽  
Molecular Genetic Study ◽  
Abcc8 Gene ◽  
Sound Therapy

Introduction of the methods for molecular-genetic analysis into clinical practice has opened up new prospects for both diagnosis and pathogenetically sound therapy of neonatal diabetes mellitus. It is currently known that the overwhelming majority of the cases of diabetes mellitus developing in children during the first six month of life are associated with defects of the genes controlling formation, development, and functional activity of pancreatic beta-cells whereas type 1 diabetes mellitus of autoimmune origin accounts for less than 1% of this pathology. This paper reports the results of a molecular-genetic study of 14 patients presenting with neonatal diabetes mellitus. Nine cases are shown to have developed as a result of mutations in KCNJ11 and ABCC8 genes. ABCC8 mutations are described for the first time in Russia. Analysis of clinical forms of neonatal diabetes mellitus revealed correlation between the type of mutations, clinical features of the disease, and susceptibility of the patients to sulfonylurea drugs.

scholarly journals Genetic mutations associated with neonatal diabetes mellitus in Omani patients

2018 ◽  
Vol 31 (2) ◽  
pp. 195-204 ◽  
Author(s):  
Aisha Al Senani ◽  
Nishath Hamza ◽  
Hanan Al Azkawi ◽  
Manal Al Kharusi ◽  
Nashat Al Sukaiti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Genetic Diagnosis ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Targeted Next Generation Sequencing ◽  
Future Strategy ◽  
Next Generation Sequencing Ngs ◽  
High Degree ◽  
First Time

Abstract Background: Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM. Methods: In this study, we investigated the genetic etiologies underlying NDM and their prevalence in Oman. We collected a cohort of 24 NDM patients, with and without genetic diagnosis, referred to our center from 2007 to 2015. All patients without a genetic diagnosis were tested for mutations in 23 NDM-associated genes using a custom-targeted next-generation sequencing (NGS) panel and methylation analysis of the 6q24 locus. Results: A genetic abnormality was detected in 15/24 (62.5%) of our Omani NDM patients. We report the detection of 6q24 methylation abnormalities and KCNJ11 mutations for the first time in Omani NDM patients. Unlike Western populations where NDM is predominantly due to mutations in the KCNJ11, ABCC8 and INS genes, NDM due to homozygous GCK gene mutations were most prevalent in Oman, having been observed in seven out of 15 NDM patients in whom we established the genetic etiology. This reflects the high degree of consanguinity which makes recessive conditions more likely. Conclusions: The results of this study are likely to impact any future strategy to introduce genetic testing for NDM disorders within the national healthcare system in Oman.

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