scholarly journals Novel glucokinase mutation in a boy with maturity-onset diabetes of the young

2008 ◽  
Vol 136 (9-10) ◽  
pp. 542-544 ◽  
Author(s):  
Tatjana Milenkovic ◽  
Dragan Zdravkovic ◽  
Katarina Mitrovic
Keyword(s):  
Autosomal Dominant ◽  
Molecular Level ◽  
Dominant Mode ◽  
Maturity Onset Diabetes ◽  
Primary Defect ◽  
Glucokinase Gene ◽  
Onset Diabetes ◽  
Heterogenous Group ◽  
Glucokinase Mutation ◽  
Mode Of Inheritance

INTRODUCTION Maturity-onset diabetes of the young (MODY) is a heterogenous group of disorders characterized by an early onset of insulin-independent diabetes mellitus, an autosomal dominant mode of inheritance and a primary defect in beta-cell. There are six subtypes of MODY. MODY2 and MODY3 are the most frequent. CASE OUTLINE We present a nine-year-old boy with intermittent hyperglycaemia. According to family history, the diagnosis of MODY2 was suspected. Molecular analysis revealed novel missense mutation R250c in exon 7 of glucokinase gene. Mutation (c.748 C>T) is the result of substitution of aminoacid cysteine by arginine (p.Arg250Cys). This is the first pediatric patient with MODY2 in Serbia whose diagnosis is established at molecular level. CONCLUSION Molecular diagnosis of MODY has important consequences in terms of prognosis, therapy and family screening of the disorder. Investigation of other patients with MODY2 in our country is important to establish prevalence and nature of mutations in glucokinase gene.

Molecular changes in the Glucokinase gene (GCK) associated with the diagnosis of Maturity Onset Diabetes of the Young (MODY) in pregnant women and newborns

2021 ◽  
Vol 17 ◽  
Author(s):  
Carolina Lepore ◽  
Enio Damaso ◽  
Veridiana Suazo ◽  
Rosane Queiroz ◽  
Raphael Liberatore Junior ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Phenotypic Change ◽  
Maturity Onset Diabetes ◽  
Primary Defect ◽  
Glucokinase Gene ◽  
Molecular Changes ◽  
Onset Diabetes ◽  
Polymerase Chain ◽  
Autosomal Inheritance

Background: Diabetes Mellitus is the most common metabolic alteration in gestation. Monogenic diabetes or Maturity-Onset Diabetes of the Young (MODY) consists in a subtype caused by primary defect in insulin secretion determined by dominant autosomal inheritance. Objectives: To analyze molecular changes of the Glucokinase gene (GCK) in pregnant women with hyperglycemia during gestation and in their neonates. Case study and Methods: We collected 201 blood samples, 128 from pregnant patients diagnosed with hyperglycemia and 73 from umbilical cord blood from neonates of the respective patients. We performed DNA extraction and polymerase chain reaction (PCR) to identify molecular changes in the GCK gene. Results: In a total of 201 samples (128 from mothers and 73 from neonates), we found changes in 21 (10.6%), 12 maternal samples (6.0%) and 9 neonatal samples (4.5%). DNA sequencing identified two polymorphisms and one deleterious MODY GCK-diagnostic mutation. Conclusions: The prevalence of molecular changes of the Glucokinase gene (GCK) and the deleterious MODY GCK-diagnostic mutation were, respectively, 9.3% and 0.7% in women with hyperglycemia during gestation and 12.5% and 1.3% in their neonates. The deleterious MODY GCK mutation identified is associated reduction in GCK activity and hyperglycemia. In the others molecular changes identified despite not having clinical significance, it was not possible to exclude phenotypic change. Therefore, these changes may interfere with the management and clinical outcome of the patients.

scholarly journals Maturity-onset diabetes of the young (MODY): Recognition is the need of the hour.

JMS SKIMS ◽  
2019 ◽  
Vol 22 (2) ◽  
Author(s):  
Javaid Bhat ◽  
Shariq Rashid Masoodi ◽  
Moomin Hussain Bhat
Keyword(s):  
Type 2 Diabetes ◽  
Cell Function ◽  
Early Adulthood ◽  
Genetic Diagnosis ◽  
Dominant Mode ◽  
Maturity Onset Diabetes ◽  
Primary Defect ◽  
Onset Diabetes

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by autosomal dominant mode of inheritance, an early onset diabetes, mostly mild hyperglycemia as a result of a primary defect in pancreatic β-cell function. MODY represents less than 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus.  It is a genetically heterogeneous form of monogenic diabetes that is caused by mutations occurring in a number of different genes thus tends to cause a slightly different variant of diabetes. At least 14 MODY subtypes with distinct genetic etiologies have been identified to date. MODY is typically diagnosed during late childhood, adolescence, or early adulthood and is usually observed to develop in adults during their late 50's. One of the main drawbacks in its diagnosis is that many people with MODY are misdiagnosed as having type 1 or type 2 diabetes owing to low index of suspicion and lack of availability of genetic testing at affordable cost. However, a molecular and genetic diagnosis results in a better treatment and could also help in identifying other family members with MODY. A high index of suspicion is required to diagnose cases of MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality of life (QOL) with increased cost and unnecessary treatment with insulin.

scholarly journals Analysis of the glucokinase gene in Iranian families with maturity onset diabetes of the young

2013 ◽  
Vol 03 (04) ◽  
pp. 192-198
Author(s):  
Meisam Javadi ◽  
Houshang Rafatpanah ◽  
Seyed Morteza Taghavi ◽  
Jalil Tavakolafshari ◽  
Rashin Ganjali ◽  
...  
Keyword(s):  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Onset Diabetes

Linkage of maturity-onset diabetes of the young to the glucokinase gene-evidence of genetic heterogeneity

1993 ◽  
Vol 21 (1) ◽  
pp. 24S-24S
Author(s):  
AT Hattersley ◽  
PJ Saker ◽  
P Patel ◽  
Y-MD Lo ◽  
R Page ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Onset Diabetes

scholarly journals The May-Hegglin Anomaly: Platelet Function, Ultrastructure and Chromosome Studies

Blood ◽  
1968 ◽  
Vol 32 (6) ◽  
pp. 950-961 ◽  
Author(s):  
JEANNE M. LUSHER ◽  
JOHN SCHNEIDER ◽  
I. MIZUKAMI ◽  
RUTH K. EVANS
Keyword(s):  
Platelet Function ◽  
Autosomal Dominant ◽  
Dominant Mode ◽  
Bleeding Tendency ◽  
Function Defect ◽  
Father And Son ◽  
Mode Of Inheritance

Abstract A father and son with the May-Hegglin anomaly were studied. Both were asymptomatic, although the father had a mild thrombocytopenia and a probable platelet thromboplastic function defect. Possible mechanisms for the bleeding tendency observed in approximately one-fourth of the persons with this anomaly are discussed. The autosomal dominant mode of inheritance is again demonstrated, and both father and son were found to have normal chromosomes.

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
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