Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

2018 ◽  
Vol 20 (1) ◽  
pp. 57-64 ◽  
Author(s):  
Stephanie R. Johnson ◽  
Jonathan J. Ellis ◽  
Paul J. Leo ◽  
Lisa K. Anderson ◽  
Uma Ganti ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Population Based ◽  
Gene Variants ◽  
Maturity Onset Diabetes ◽  
Childhood Diabetes ◽  
Onset Diabetes ◽  
Young Gene

Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity‐onset diabetes of the young

2019 ◽  
Vol 41 (1) ◽  
pp. 129-132 ◽  
Author(s):  
Anatoly Tiulpakov ◽  
Natalia Zubkova ◽  
Nina Makretskaya ◽  
Tatiana S. Krasnova ◽  
Anna I. Melnikova ◽  
...  
Keyword(s):  
Gene Variants ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Onset Diabetes

scholarly journals Norwegian Childhood Diabetes Registry: Childhood onset diabetes in Norway 1973-2012

2013 ◽  
Vol 23 (1) ◽  
Author(s):  
Torild Skrivarhaug
Keyword(s):  
Children And Adolescents ◽  
Diabetes Care ◽  
Population Based ◽  
Childhood Diabetes ◽  
Childhood Onset ◽  
Diabetes Registry ◽  
Onset Diabetes ◽  
Quality Of Diabetes Care ◽  
Norwegian Childhood Diabetes Registry ◽  
Incident Cases

The Norwegian Childhood Diabetes Registry (NCDR) is a prospective, population-based, nationwide registry which systematically register all incident cases of childhood diabetes, and systematically monitors the outcome of diabetes care in children and adolescents. NCDR includes data on childhood onset diabetes since 1973, and diabetes care outcome since 2001. NCDR was founded with the following objectives: To improve the diagnostics, classifications and treatment of childhood-onset diabetes, surveillance of incidence of diabetes in children and adolescents, surveillance of quality of diabetes care in Norwegian paediatric departments, and to stimulate to research in diabetes.

An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY)

2017 ◽  
Vol 30 (1) ◽  
Author(s):  
Karolina Antosik ◽  
Piotr Gnyś ◽  
Przemysława Jarosz-Chobot ◽  
Małgorzata Myśliwiec ◽  
Agnieszka Szadkowska ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Sanger Sequencing ◽  
Single Gene ◽  
Gene Mutations ◽  
Paediatric Population ◽  
Monogenic Diabetes ◽  
Diabetic Patients ◽  
Molecular Testing ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

AbstractBackground:Monogenic diabetes is a rare disease caused by single gene mutations. Maturity onset diabetes of the young (MODY) is one of the major forms of monogenic diabetes recognised in the paediatric population. To date, 13 genes have been related to MODY development. The aim of the study was to analyse the sequence of the BCL2-associated agonist of cell death (Methods:A group of 122 diabetic patients were recruited from the “Polish Registry for Paediatric and Adolescent Diabetes – nationwide genetic screening for monogenic diabetes” project. The molecular testing was performed by Sanger sequencing.Results:A total of 10 sequence variants of theConclusions:Among the analysed patients suspected of MODY, one possible pathogenic variant was identified in one patient; however, further confirmation is required for a certain identification.

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family

2018 ◽  
Vol 10 (9) ◽  
pp. 764-767 ◽  
Author(s):  
Stephanie R. Johnson ◽  
Paul Leo ◽  
Louise S. Conwell ◽  
Mark Harris ◽  
Matthew A. Brown ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Clinical Usefulness ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes
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