Co-inheritance ofHNF1aandGCKmutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing

2013 ◽  
Vol 79 (3) ◽  
pp. 342-347 ◽  
Author(s):  
M. P. López-Garrido ◽  
S. Herranz-Antolín ◽  
M. J. Alija-Merillas ◽  
P. Giralt ◽  
J. Escribano
Keyword(s):  
Genetic Testing ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

Clinical and Genetic Features of Maturity-onset Diabetes of the Young in Pediatric Patients: a 12-year Monocentric Experience

2021 ◽  
Author(s):  
Stefano Passanisi ◽  
Giuseppina Salzano ◽  
Bruno Bombaci ◽  
Fortunato Lombardo
Keyword(s):  
Genetic Testing ◽  
Paediatric Population ◽  
Maturity Onset Diabetes ◽  
C Peptide ◽  
Onset Diabetes ◽  
Appropriate Treatment ◽  
Genetic Features ◽  
The Mean ◽  
Prompt Diagnosis ◽  
Diagnostic Investigations

Abstract Background. A retrospective observational study was conducted to assess the prevalence of maturity onset diabetes of the young (MODY) in a large paediatric population of Southern Italy. Clinical and genetic features of the identified MODY patients were also described. Methods. Genetic testing was performed in children and adolescents newly diagnosed with diabetes who presented autoantibody negativity and fasting C-peptide levels ≥ 0.8 ng/mL. Patients with a low insulin daily dose and optimal glycaemic control after two years from diabetes onset were also investigated for monogenic diabetes, regardless of their autoimmunity status and/or C-peptide levels.Results. A prevalence of 6.5% of MODY was found. In particular, glucokinase-MODY was the most common type of MODY. The mean age at diagnosis was 9.1 years. Clinical presentation and biochemical data were heterogeneous also among patients belonging to the same MODY group. No clear criteria to screen patients eligible for diagnostic investigations were identified. Conclusions. Our findings highlight that a more detailed clinical evaluation of patients diagnosed with diabetes along with easier and less expensive approachability to genetic testing may allow diagnosing an increasing number of MODY cases. A correct, prompt diagnosis is crucial to choose the most appropriate treatment and offer adequate genetic counselling.

MODY in Ukraine: genes, clinical phenotypes and treatment

2017 ◽  
Vol 30 (10) ◽  
Author(s):  
Evgenia Globa ◽  
Nataliya Zelinska ◽  
Lenka Elblova ◽  
Petra Dusatkova ◽  
Ondrej Cinek ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family Members ◽  
Genetic Diagnosis ◽  
Maturity Onset Diabetes ◽  
Genetic Etiology ◽  
Clinical Phenotypes ◽  
Onset Diabetes ◽  
Patients With Diabetes ◽  
Made In

AbstractBackground:Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members.Methods:Genetic testing of the most prevalent MODY genes (Results:A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%).Conclusions:Genetic testing identified pathogenic

scholarly journals Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?

2018 ◽  
Vol 20 (2) ◽  
pp. 106-112 ◽  
Author(s):  
Shideh Majidi ◽  
Alexandra Fouts ◽  
Laura Pyle ◽  
Christina Chambers ◽  
Taylor Armstrong ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes
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