Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
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DOI: 10.1007/s00125-021-05597-y
Abstract: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes… read more here.
Keywords: genetic testing; rates consanguinity; recessively inherited; monogenic diabetes ... See more keywords
Diagnosis of hepatic nuclear factor 1A monogenic diabetes mellitus (HNF1A-MODY) impacts antihyperglycemic treatment
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DOI: 10.1007/s00508-020-01770-2
Abstract: Monogenic mutations of the hepatocyte nuclear factor 1 homeobox A maturity onset diabetes of the young (HNF1A-MODY) is characterized by early onset, typically before the age of 25 years. Patients are often not clinically recognized; however, the… read more here.
Keywords: treatment; mody; diabetes mellitus; monogenic diabetes ... See more keywords
Clinical experience from a regional monogenic diabetes referral centre in Singapore.
Sign Up to like & getrecommendations! Published in 2020 at "Diabetes research and clinical practice"
DOI: 10.1016/j.diabres.2020.108390
Abstract: AIMS Monogenic diabetes (also known as maturity-onset diabetes of the young or MODY) affects a subset of individuals with young-onset diabetes. We report our diagnostic work-up experience for such individuals. METHODS Serving as a regional… read more here.
Keywords: genetic testing; referral centre; mody; clinical experience ... See more keywords
MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Investigative Medicine High Impact Case Reports"
DOI: 10.1177/23247096211065626
Abstract: From our monogenic diabetes registry set-up at a secondary-care diabetes center, we identified a nontrivial subpopulation (~15%) of maturity-onset diabetes of the young (MODY) among people with young-onset diabetes. In this report, we describe the… read more here.
Keywords: hnf1b mody; mody; onset diabetes; hepatocyte nuclear ... See more keywords
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals
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DOI: 10.1186/s12916-017-0977-3
Abstract: BackgroundDiagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1–2% of all cases… read more here.
Keywords: early onset; diabetes genes; individuals diabetes; disease ... See more keywords
Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature
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DOI: 10.1210/jendso/bvaa165
Abstract: Abstract Cystic fibrosis–related diabetes (CFRD) is associated with worsening pulmonary function, lower body mass index, increased infection frequency, and earlier mortality. While the incidence of CFRD is rising, its development in patients under the age… read more here.
Keywords: child cystic; cystic fibrosis; fibrosis; case ... See more keywords
Diagnosis and Management of Monogenic Diabetes in Pregnancy.
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DOI: 10.2174/1573399818666220514153021
Abstract: Introduction Monogenic diabetes occurs in up to 3% of people with diabetes. Mutations in over 40 different genes are responsible. The most common genes affected are HNF1A, HNF4A, GCK, and HNF1B. Additionally, other types of… read more here.
Keywords: diabetes pregnancy; diagnosis; management; monogenic diabetes ... See more keywords
28-OR: Genetic Landscape of Diabetes in the Swiss Population
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DOI: 10.2337/db19-28-or
Abstract: Background/Introduction: Diabetes represents a heterogeneous group of metabolic disorders and monogenic diabetes is thought to affect 1- 5% of the diabetes population. Monogenic diabetes causes neonatal diabetes (ND), maturity-onset diabetes of the young (MODY), and… read more here.
Keywords: mody genes; monogenic diabetes; variants mody; age ... See more keywords
1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel
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DOI: 10.2337/db20-1453-p
Abstract: Genetic testing for monogenic diabetes, essential for accurate diagnosis and appropriate treatment is underutilized. Obstacles include clinical overlap with type 1 and type 2 diabetes and difficulty distinguishing clinically significant (pathogenic/likely pathogenic; P/LP) from normal… read more here.
Keywords: none; variant interpretation; expert panel; monogenic diabetes ... See more keywords
Zinc Transporter 8 Autoantibodies (ZnT8A) and a Type 1 Diabetes Genetic Risk Score Can Exclude Individuals With Type 1 Diabetes From Inappropriate Genetic Testing for Monogenic Diabetes
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DOI: 10.2337/dc18-0373
Abstract: We have recently shown that the detection of monogenic diabetes in a population can be improved by excluding individuals with type 1 diabetes (T1D) identified by having low C-peptide levels and/or the presence of GAD… read more here.
Keywords: individuals type; transporter autoantibodies; autoantibodies znt8a; type diabetes ... See more keywords
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.
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DOI: 10.2337/dc21-2056
Abstract: OBJECTIVE Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes. In 2009, >80% of U.K. cases were estimated to be misdiagnosed. Since then, there have been a number of initiatives to… read more here.
Keywords: monogenic diabetes; gdn involvement; mody calculator; positive test ... See more keywords