scholarly journals Clinical Characteristics and Diagnostic Criteria of Maturity-Onset Diabetes Of The Young (MODY) due to Molecular Anomalies of the HNF1A Gene

2011 ◽  
Vol 96 (8) ◽  
pp. E1346-E1351 ◽  
Author(s):  
Christine Bellanné-Chantelot ◽  
David Joseph Lévy ◽  
Claire Carette ◽  
Cécile Saint-Martin ◽  
Jean-Pierre Riveline ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Characteristics ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Hnf1a Gene

scholarly journals MODY2 in Asia: analysis of GCK mutations and clinical characteristics

2020 ◽  
Vol 9 (5) ◽  
pp. 471-478
Author(s):  
Yuan Zhou ◽  
ShengNan Wang ◽  
Jing Wu ◽  
JianJun Dong ◽  
Lin Liao
Keyword(s):  
Family History ◽  
Clinical Characteristics ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Maturity Onset Diabetes ◽  
Coding Regions ◽  
Asian Patients ◽  
Onset Diabetes ◽  
Common Location ◽  
History Of

Aims Heterozygous inactivating mutations in the GCK gene cause the familial, mild fasting hyperglycaemia named MODY2. Many patients with MODY2 in Asia have delayed timely treatment because they did not receive the correct diagnosis. This study aims to analyze the clinical characteristics and GCK mutations in Asian MODY2. Methods We have collected 110 Asian patients with MODY2 from the PubMed, Embase, Medline, Web of Science, CNKI, and Wanfang with the following search terms: ‘maturity-onset diabetes of the young’ OR ‘MODY’ OR ‘maturity-onset diabetes of the young type 2’ OR ‘MODY2’ OR ‘GCK-DM’ OR ‘GCK-MODY’. Both mutations of GCK and clinical characteristics of MODY2 were analyzed. Results There were 96 different mutations that occurred in coding regions and non-coding regions. Exon 5 and 7 were the most common location in coding regions and missense was the primary mutation type. The proportion of probands younger than 25 was 81.8%, and 81.4% of the probands had family history of hyperglycaemia. Ninety percent and 93% of Asian MODY2 probands exhibited mild elevation in FPG (5.4–8.3 mmol/L) and HbA1c (5.6–7.6%), respectively. Conclusions In most Asian patients, MODY2 occurred due to GCK mutation in coding regions, and exon 5 and 7 were the most common locations. FPG, HbA1c, and familial diabetes were important reference indicators for diagnosing MODY2. Altogether, the study indicates that for the young onset of diabetes with mild elevated blood glucose and HbA1c and family history of hyperglycaemia, molecular genetic testing is suggested in order to differentiate MODY2 from other types of diabetes earlier.

scholarly journals Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients

2004 ◽  
Vol 13 (4) ◽  
pp. 422-427 ◽  
Author(s):  
Jian Yu Xu ◽  
Qing Hong Dan ◽  
Vivian Chan ◽  
Nelson M S Wat ◽  
Sidney Tam ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Chinese Patients ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

scholarly journals Monogenic diabetes: a new pathogenic variant of HNF1A gene

2021 ◽  
Vol 14 (1) ◽  
pp. e231837
Author(s):  
Raquel Vilela Oliveira ◽  
Teresa Bernardo ◽  
Sandrina Martins ◽  
Ana Sequeira
Keyword(s):  
Diabetes Mellitus ◽  
Genetic Test ◽  
Early Recognition ◽  
Single Gene ◽  
Signs And Symptoms ◽  
Oral Glucose ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Fast Absorption ◽  
Hnf1a Gene

Maturity onset diabetes of the young defines a diabetes mellitus subtype, with no insulin resistance or autoimmune pancreatic β-cells dysfunction, that occurs by mutation in a single gene. A 13-year-old girl hospitalised due to hyperglycemia plus glycosuria without ketosis, and with normal glycated haemoglobin of 6.8%. She started a sugar-free fast-absorption diet and no insulin therapy was required. Fasting glucose was normal, but 2 hours after lunch she presented hyperglycemia as after 2 hours of an oral glucose tolerance test, with 217 mg/dL. Family history was positive for type 2 diabetes mellitus with an autosomal dominant pattern. She was discharged with fast-absorption sugar-free diet and low-dose of sulfonylurea. A genetic test was performed detecting a mutation in heterozygosity of HNF1A gene, compatible with the diagnosis of maturity onset diabetes of the young 3 (MODY3), not reported in the literature. Early recognition of signs and symptoms increase awareness of MODY. Genetic test allows confirmation and leads to optimised treatment.

scholarly journals Identification and Clinical Characteristics Analysis of HNF-1A Mutations p.I27L, p.S487N and p.G574S in Chinese Patients with MODY3

2021 ◽  
Author(s):  
Rong Long ◽  
Chen-Xi Yu ◽  
Hui-Jun Yang ◽  
Tai-Cheng Zhou ◽  
Lei Yang ◽  
...  
Keyword(s):  
Plasma Glucose ◽  
Clinical Characteristics ◽  
Clinical Symptoms ◽  
Glycosylated Hemoglobin ◽  
Chinese Patients ◽  
Islet Function ◽  
Onset Age ◽  
Maturity Onset Diabetes ◽  
Mutation Site ◽  
Onset Diabetes

Abstract Background: Due to the rarity, the type 3 of maturity-onset diabetes of the young (MODY3) has not been explored comprehensively. The study aimed to describe and analyze the molecular and clinical characteristics of MODY3, which could help physicians understand the subtype of diabetes and increase the diagnosis rates in the future.Methods: Ten unrelated patients with suspected maturity-onset diabetes of the young (MODY) were included in the study based on information on family history and onset age. Sanger sequencing was used to identify cases with mutations in the hepatic nuclear factor 1A gene (HNF-1A). Results: Five patients were identified with MODY3, three cases (60%) with p.I27L mutation, one case (20%) with p.S487N mutation, and one case (20%) with p.G574S mutation. The average onset age was (23.00±3.00) years and the average age of diagnosis was (28.67±9.29) years. Most patients had typical clinical symptoms (polydipsia, polyuria, polyphagia, and weight loss). The main complications included diabetic ketoacidosis (DKA, 3/5,60%), diabetic macroangiopathy (2/5,40%), diabetic peripheral neuropathy (DPN,3/5,60%), diabetic nephropathy (DN,1/5,20%) and diabetic retinopathy (DR,1/5,20%). Four patients (80%) had fatty liver. The average body mass index (BMI) (26.39±4.67) kg/㎡, triglyceride (TG 2.95±1.43 mmol/L) and low-density lipoprotein (LDL-C 3.37±0.65 mmol/L) were beyond normal value. The glycosylated hemoglobin A1c (HbA1c 12.45±4.60 %), fasting plasma glucose (FPG 10.10±3.57 mmol/L) and postprandial plasma glucose (PPG 21.88±2.53 mmol/L) also increased dramatically. In addition, islet function examination revealed impaired secretion and slightly poor reserve function, which was similar to the changes inT2DM. All five patients used insulin, three (60%) also using antidiabetic drugs which did not include sulfonylureas.Conclusions: In brief, five patients were identified with MODY3. The mutation site could influence the onset age, the islet function and the incidence of complications. The age at diagnosis was 4.2 years later than the onset age. The control of diabetes was poor due to the inappropriate treatment. It is vital to make an early diagnosis and provide appropriate treatment for MODY3 patients.

Maturity onset diabetes of the young - clinical characteristics of a portuguese cohort

2017 ◽  
Author(s):  
Ana Amado ◽  
Raquel Almeida ◽  
Andre Carvalho ◽  
Claudia Amaral ◽  
Claudia Freitas ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

scholarly journals HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Selvihan Beysel ◽  
Nilnur Eyerci ◽  
Ferda Alparslan Pinarli ◽  
Muhammed Kizilgul ◽  
Ozgur Ozcelik ◽  
...  
Keyword(s):  
Early Onset ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Hnf1a Gene

Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients

2006 ◽  
Vol 74 (1) ◽  
pp. 75-81 ◽  
Author(s):  
Jin Soon Hwang ◽  
Choong Ho Shin ◽  
Sei Won Yang ◽  
Sung young Jung ◽  
Nam Huh
Keyword(s):  
Clinical Characteristics ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes
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