scholarly journals HNF1A Gene

2020 ◽  
Author(s):  
Keyword(s):  
Hnf1a Gene

scholarly journals A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes

Life ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 755
Author(s):  
Zsolt Gaál ◽  
Zsuzsanna Szűcs ◽  
Irén Kántor ◽  
Andrea Luczay ◽  
Péter Tóth-Heyn ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Low Dose ◽  
Comprehensive Analysis ◽  
First Line ◽  
Pathogenic Mutations ◽  
Appropriate Treatment ◽  
Causal Genes ◽  
Hnf1a Gene ◽  
Gene Panel Sequencing ◽  
Generation Sequencing

Maturity-onset diabetes of the young (MODY) has about a dozen known causal genes to date, the most common ones being HNF1A, HNF4A, HNF1B and GCK. The phenotype of this clinically and genetically heterogeneous form of diabetes depends on the gene in which the patient has the mutation. We have tested 450 Hungarian index patients with suspected MODY diagnosis with Sanger sequencing and next-generation sequencing and found a roughly 30% positivity rate. More than 70% of disease-causing mutations were found in the GCK gene, about 20% in the HNF1A gene and less than 10% in other MODY-causing genes. We found 8 pathogenic and 9 likely pathogenic mutations in the HNF1A gene in a total of 48 patients and family members. In the case of HNF1A-MODY, the recommended first-line treatment is low dose sulfonylurea but according to our data, the majority of our patients had been on unnecessary insulin therapy at the time of requesting their genetic testing. Our data highlights the importance of genetic testing in the diagnosis of MODY and the establishment of the MODY subtype in order to choose the most appropriate treatment.

The G319S variants of the HNF1A gene in a family with diabetes mellitus

Therapy ◽  
2021 ◽  
Vol 9_2021 ◽  
pp. 148-154
Author(s):  
Ivanoshchuk D.E. Ivanoshchuk ◽  
Mikhailova S.V. Mikhailova ◽  
Ovsyannikova A.K. Ovsyannikova A ◽  
Shakhtshneider E.V. Shakhtshneider ◽  
Druk I.V. Druk I ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Hnf1a Gene

scholarly journals Traditional clinical criteria outperform high-sensitivity C-reactive protein for the screening of hepatic nuclear factor 1 alpha maturity-onset diabetes of the young among young Asians with diabetes

2018 ◽  
Vol 9 (9) ◽  
pp. 271-282 ◽  
Author(s):  
Suresh Rama Chandran ◽  
Jaydutt Bhalshankar ◽  
Rashida Farhad Vasanwala ◽  
Yi Zhao ◽  
Katharine R. Owen ◽  
...  
Keyword(s):  
Young Adults ◽  
Age Of Onset ◽  
High Sensitivity ◽  
Family History Of Diabetes ◽  
Clinical Criteria ◽  
Reactive Protein ◽  
Gene Testing ◽  
Hnf1a Gene ◽  
Hs Crp ◽  
Nuclear Factor 1

Background: Young adults with diabetes in Asia represent a heterogeneous group. Using traditional clinical criteria to preselect individuals for testing for maturity-onset diabetes of the young (MODY) may exclude a large proportion from testing. High-sensitivity C-reactive protein (hs-CRP) has shown promise as a biomarker to differentiate hepatic nuclear factor 1 alpha ( HNF1A)-MODY from type 2 diabetes. We aimed to compare the use of hs-CRP as a biomarker versus traditional criteria, to guide testing for HNF1A-MODY among a cohort of young adults with diabetes in Singapore. Methods: A total of 252 adults (age of onset ⩽45 years) and 20 children with diabetes were recruited. Using traditional criteria (family history of diabetes and onset of diabetes ⩽25 years) and an hs-CRP cut off of ⩽0.5 mg/l, 125 and 37 adults, respectively, were identified for HNF1A gene testing. All children underwent HNF1A gene testing. Results: Five adults (5/143, 3.5%) with HNF1A-MODY were identified. There were no HNF1A gene mutations among the children. Traditional criteria correctly identified all five HNF1A-MODY individuals (5/125, 4%), while applying an hs-CRP level of ⩽0.5 mg/l selected just 1 of these 5 for HNF1A gene testing (1/37, 2.7%). None of those with a positive GAD antibody or undetectable C-peptide level had HNF1A-MODY. Conclusion: The use of hs-CRP to guide screening for HNF1A-MODY among Asian young adults with diabetes did not improve the diagnostic yield. Applying a combination of age of onset of diabetes under 25 years and a family history of diabetes alone could guide targeted HNF1A-MODY screening in Asians, with an expected yield of 4% diagnosed with HNF1A-MODY among those screened.

Carriers of genetic variants in the HNF1A gene are more common among dead opioid addicts than among living addicts

2016 ◽  
Vol 72 (9) ◽  
pp. 1159-1160
Author(s):  
Anh Nguyen ◽  
Tore B. Stage ◽  
Søren Feddersen ◽  
Dorte J. Christoffersen ◽  
Mette Marie H. Christensen ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Hnf1a Gene

Association and expression analysis of porcine HNF1A gene related to meat and carcass quality traits

Meat Science ◽  
2013 ◽  
Vol 94 (4) ◽  
pp. 474-479 ◽  
Author(s):  
Autchara Kayan ◽  
Muhammad Jasim Uddin ◽  
Hakan Kocamis ◽  
Dawit Tesfaye ◽  
Christian Looft ◽  
...  
Keyword(s):  
Expression Analysis ◽  
Carcass Quality ◽  
Quality Traits ◽  
Hnf1a Gene

scholarly journals Mutations in HNF1A Gene are not a Common Cause of Familial Young-Onset Diabetes in Iran

2017 ◽  
Vol 33 (1) ◽  
pp. 91-95 ◽  
Author(s):  
Meysam Moghbeli ◽  
Bahram Naghibzadeh ◽  
Martha Ghahraman ◽  
Sedigheh Fatemi ◽  
Morteza Taghavi ◽  
...  
Keyword(s):  
Common Cause ◽  
Young Onset ◽  
Onset Diabetes ◽  
Hnf1a Gene

scholarly journals Erratum to: Carriers of genetic variants in the HNF1A gene are more common among dead opioid addicts than among living addicts

2016 ◽  
Vol 73 (2) ◽  
pp. 255-255
Author(s):  
Anh Nguyen ◽  
Tore B. Stage ◽  
Søren Feddersen ◽  
Dorte J. Christoffersen ◽  
Mette Marie H. Christensen ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Hnf1a Gene
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