scholarly journals Heterozygous recurrent HNF4A variant p. Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas

2020 ◽  
Author(s):  
Sarah E. Sheppard ◽  
Brett Barrett ◽  
Colleen Muraresku ◽  
Heather McKnight ◽  
Diva D. De Leon ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

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.

Maturity Onset Diabetes of the Young – An Overview of Common Types. A Review

2018 ◽  
Vol 25 (2) ◽  
pp. 209-213
Author(s):  
Ibrar Rafique ◽  
Muhammad Arif Nadeem Saqib ◽  
Asif Mir ◽  
Muhammad Naeem
Keyword(s):  
South Asian ◽  
Large Scale ◽  
Autosomal Dominant ◽  
Original Data ◽  
Maturity Onset Diabetes ◽  
Asian Countries ◽  
Onset Diabetes ◽  
Key Word ◽  
Dominant Disease ◽  
The Common

Abstract Background and aims: Maturity Onset diabetes in Young (MODY) is an autosomal dominant disease and according to an estimate, the MODY cases are 2% of all the diabetic cases. The objective was to review the common types of MODY reported in literature in context to their geographical areas. Material and method: For literature search, PubMed data base was used. The key word was “Maturity onset diabetes of the young”. The articles were reviewed by titles and if found relevant, the abstract and full article (if available) were retrieved. The studies that were published in English, presented original data and describe type of MODY were included. The information related to author, year of publication and type of MODY was extracted in excel sheet. Results: A total of 1135 studies resulted which were reviewed, and 206 articles were finally selected. The studies were grouped according to the regions i.e. Asia, Europe, America, Africa and Australia & Oceania. The MODY 2 was most prevalent in regions i.e. Asia, Europe, America and Australia & Oceania followed by MODY 3. When analysed according to countries, MODY 2 was found prevalent in India, Korea, UK, Italy, Spain, Czech Republic, Canada and Brazil while MODY 3 was common in Japan, China, France Norway and Germany. Conclusion: The MODY 2 was most common. The data from south Asian countries including Pakistan is lacking. As there is a huge burden of diabetes in the country so there is a dire need to do large scale studies on MODY in the country.

scholarly journals Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

2020 ◽  
Vol 9 (1) ◽  
pp. 288
Author(s):  
Maria I. Alvelos ◽  
Catarina I. Gonçalves ◽  
Eduarda Coutinho ◽  
Joana T. Almeida ◽  
Margarida Bastos ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Bioinformatics Analysis ◽  
Clinical Presentation ◽  
Maturity Onset Diabetes ◽  
Portuguese Population ◽  
Clinical Criteria ◽  
Onset Diabetes ◽  
Insulin Dependence ◽  
Functional Consequences ◽  
Hnf1a Gene

Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the GCK (MODY 2), HNF1A (MODY 3), and HNF4A (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population. The GCK, HNF1A, and HNF4A genes were sequenced in 46 unrelated patients that had at least two of the three classical clinical criteria for MODY (age at diagnosis, family history, and clinical presentation). The functional consequences of the mutations were predicted by bioinformatics analysis. Mutations were identified in 23 (50%) families. Twelve families had mutations in the GCK gene, eight in the HNF1A gene, and three in the HNF4A gene. These included seven novel mutations (GCK c.494T>C, GCK c.563C>G, HNF1A c.1623G>A, HNF1A c.1729C>G, HNF4A c.68delG, HNF4A c.422G>C, HNF4A c.602A>C). Mutation-positive patients were younger at the time of diagnosis when compared to mutation-negative patients (14.3 vs. 23.0 years, p = 0.011). This study further expands the spectrum of known mutations associated with MODY, and may contribute to a better understanding of this type of diabetes and a more personalized clinical management of affected individuals.

scholarly journals Prevalence of Maturity-Onset Diabetes of the Young Mutations in Brazilian Families With Autosomal- Dominant Early-Onset Type 2 Diabetes

Diabetes Care ◽  
2001 ◽  
Vol 24 (4) ◽  
pp. 786-788 ◽  
Author(s):  
R. S. Moises ◽  
A. F. Reis ◽  
V. Morel ◽  
A. R. Chacra ◽  
S. A. Dib ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Maturity Onset Diabetes ◽  
Onset Type ◽  
Onset Diabetes
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