A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2

2015 ◽  
Vol 41 (4) ◽  
pp. 342-343 ◽  
Author(s):  
D.T. Papadimitriou ◽  
P.J. Willems ◽  
C. Bothou ◽  
T. Karpathios ◽  
A. Papadimitriou
Keyword(s):  
Early Onset ◽  
Heterozygous Mutation ◽  
Maturity Onset Diabetes ◽  
Mild Form ◽  
Glucokinase Gene ◽  
Onset Diabetes

Functional characterization of two novel splicing mutations of glucokinase gene associated with maturity-onset diabetes of the young type 2 (MODY2)

2014 ◽  
Vol 48 (2) ◽  
pp. 248-253 ◽  
Author(s):  
E. L. Igudin ◽  
P. V. Spirin ◽  
V. S. Prasolov ◽  
N. A. Zubkova ◽  
E. E. Petryaikina ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Splicing Mutations ◽  
Onset Diabetes

Molecular and phenotypic characteristics of maturity-onset diabetes of the young compared with early onset type 2 diabetes in China

2015 ◽  
Vol 7 (6) ◽  
pp. 858-863 ◽  
Author(s):  
Manna Zhang ◽  
Jiao Jiao Zhou ◽  
Wenjie Cui ◽  
Yan Li ◽  
Peng Yang ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Early Onset ◽  
Maturity Onset Diabetes ◽  
Phenotypic Characteristics ◽  
Onset Type ◽  
Onset Diabetes

Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus

2009 ◽  
Vol 70 (6) ◽  
pp. 847-853 ◽  
Author(s):  
Nattachet Plengvidhya ◽  
Watip Boonyasrisawat ◽  
Nalinee Chongjaroen ◽  
Prapaporn Jungtrakoon ◽  
Sutin Sriussadaporn ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Early Onset ◽  
Maturity Onset Diabetes ◽  
Onset Type ◽  
Onset Diabetes

Defective PAX4 R192H transcriptional repressor activities associated with maturity onset diabetes of the young and early onset-age of type 2 diabetes

2012 ◽  
Vol 26 (4) ◽  
pp. 343-347 ◽  
Author(s):  
Suwattanee Kooptiwut ◽  
Nattachet Plengvidhya ◽  
Titikan Chukijrungroat ◽  
Jatuporn Sujjitjoon ◽  
Namoiy Semprasert ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Early Onset ◽  
Transcriptional Repressor ◽  
Onset Age ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

scholarly journals Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation

2014 ◽  
Vol 58 (7) ◽  
pp. 772-775 ◽  
Author(s):  
Paula Afonso ◽  
Nélia Ferraria ◽  
Alexandre Carvalho ◽  
Sofia Vidal Castro
Keyword(s):  
De Novo ◽  
Tolerance Test ◽  
Heterozygous Mutation ◽  
Oral Glucose ◽  
Maturity Onset Diabetes ◽  
Diagnostic Challenge ◽  
Familial History ◽  
Monogenic Disorders ◽  
Onset Diabetes

Maturity Onset Diabetes of Young (MODY) is a heterogeneous group of monogenic disorders that result in β-cell dysfunction, with an estimated prevalence of 1%-2% in industrialized countries. MODY generally occurs in non-obese patients with negative autoantibodies presenting with mild to moderate hyperglycemia. The clinical features of the patients are heterogeneous, depending on the different genetic subtypes. We pretend to report a case of MODY type 2 caused by a novel de novo CGK mutation, highlighting the importance of the differential diagnosis in pediatric diabetes. A 13-year-old, healthy and non-obese girl was admitted for investigation of recurrent hyperglycemia episodes. She presented with persistent high levels of fasting blood glycemia (> 11.1 mmol/L) and had no familial history of diabetes. The blood glucose profile revealed an impaired fasting glucose of 124 mg/dL (6,9 mmol/L) with a normal oral glucose tolerance test. Fasting insulinemia was 15 mg/dL (90.1 pmol/L), HOMA-IR was 3.9 and hemoglobin A1c was 7.1%. Pancreatic autoantibodies were negative. Genetic testing identified a novel missense heterozygous mutation in exon 5 of GCK gene c.509G > T (p.Gly170Val), not present on the parents. This result established the diagnosis of MODY type 2. Clinical identification of patients with MODY remains a diagnostic challenge, especially when familial history is absent. Molecular diagnosis is very important for establishing an individualized treatment and providing a long term prognosis for each type of MODY.

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