Low Prevalence of <i>HNF1A</i> Mutations After Molecular Screening of Multiple MODY Genes in 58 Italian Families Recruited in the Pediatric or Adult Diabetes Clinic From a Single Italian Hospital

Delvecchio, Maurizio; Ludovico, Ornella; Menzaghi, Claudia; Paola, Rosa Di; Zelante, Leopoldo; Marucci, Antonella; Grasso, V.; Trischitta, Vincenzo; Carella, Massimo; Barbetti, Fabrizio

doi:10.2337/dc14-1788

Cited by 26 publications

(15 citation statements)

References 5 publications

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“…(35) Multiple other Italian studies have produced data to support this study. (36–38) The trend of increased GCK- MODY compared to HNF1A- MODY is also shown in small studies in the Czech Republic,(39) Spain,(40) and Greece. (41) Between large patient registries, centralized MODY genetic testing facilities, and smaller cohort studies, the landscape of MODY and monogenic diabetes across Europe has been well studied.…”

Section: Mody Epidemiology Studiesmentioning

confidence: 72%

“…Some of the targeted studies, such as those in Germany, Italy, and Spain, had a 70–90% hit rate, but such high specificity could be accompanied by compromised sensitivity; i.e., ability to detect true positives. (29, 35, 36, 40) Delineating monogenic diabetes from type 1 or type 2 diabetes is challenging and is becoming more difficult in general due to similarity of clinical features including monogenic diabetes patients with elevated BMI, fasting glucose and HbA1c levels similar to type 2 diabetics, incomplete penetrance,(65) and even islet autoantibodies in some monogenic diabetes cases. (29) Available screening algorithms for MODY are based on the best interpretation of currently available epidemiological studies, but the ideal screening algorithm would be based on comprehensive sequencing of a large number of diabetic individuals unselected for any particular risk factors.…”

Section: Implications Of Epidemiological Studies Of Modymentioning

confidence: 99%

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Undiagnosed MODY: Time for Action

2015

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Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes that accounts for at least 1% of all cases of diabetes mellitus. MODY classically presents as non-insulin requiring diabetes in lean individuals younger than 25 with evidence of autosomal dominant inheritance, but these criteria do not capture all cases and can also overlap with other diabetes types. Genetic diagnosis of MODY is important for selecting the right treatment, yet ~95% of MODY cases in the U.S. are misdiagnosed. MODY prevalence and characteristics have been well-studied in some populations, such as the UK and Norway, while other ethnicities, like African and Latino, need much more study. Emerging next-generation sequencing methods are making more widespread study and clinical diagnosis increasingly feasible. This review will cover the current epidemiological studies of MODY and barriers and opportunities for moving toward a goal of access to an appropriate diagnosis for all affected individuals.

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Section: Mody Epidemiology Studiesmentioning

confidence: 72%

Section: Implications Of Epidemiological Studies Of Modymentioning

confidence: 99%

Undiagnosed MODY: Time for Action

2015

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“…A minimum prevalence of 68-108 cases per million persons in UK is estimated [56]. Several other studies conducted in European countries show similar frequencies of MODY with GCK MODY being the most prevalent followed by HNF4A and HNF1A MODY [53][54][55][56][57][58][59][60][61][62][63][64].…”

Section: Europementioning

confidence: 88%

“…Within European populations, regional differences in MODY have been reported. Some Italian studies have reported a high prevalence of GCK MODY in Southern European paediatric populations, while HNF1A MODY is the commonest MODY subtype in Northern Europe [54,55]. In the UK the confirmed genetic variants include HNF4A, GCK, HNF1A, PDX1, HNF1B, NDF1 and INS.…”

Section: Europementioning

confidence: 99%

Screening for monogenic diabetes in primary care

Baldacchino

Pace

Vassallo

2020

Primary Care Diabetes

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“…Subtypes of MODY differ from each other by their prevalence, clinical picture, and treatment requirements [1, 7, 8]. Despite substantial variation in frequency of MODY subtypes in various populations, the most prevalent mutations affect genes of hepatocyte nuclear factor 1α ( HNF1A ) and glucokinase ( GCK ), which cause MODY3 and MODY2, respectively [9]. The proportion of these subtypes is up to 90% of all MODY cases [10].…”

Section: Introductionmentioning

confidence: 99%

ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective

et al. 2016

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Maturity-onset diabetes of the young (MODY) is a heterogeneous group of diseases associated with gene mutations leading to dysfunction of pancreatic β-cells. Thirteen identified MODY variants differ from each other by the clinical course and treatment requirement. Currently, MODY subtypes 1–5 are best-studied, descriptions of the other forms are sporadic. This article reports a MODY12 clinical case, caused by a mutation in the gene of the ATP-binding cassette transporter sub-family C member 8 (ABCC8), encoding sulfonylurea receptor 1. Diabetes manifested in a 27-year-old non-obese man with epilepsy in anamnesis. No evidence of ketosis was present, pancreatic antibodies were undetectable, and C-peptide remained within the reference range. During the initial investigation, non-proliferative diabetic retinopathy and elevated albumin excretion rate was revealed. After 4 months, diabetes was complicated by pre-proliferative retinopathy and diabetic macular edema. Recurrent hypoglycemia and an increase in body weight was observed on moderate and even small insulin doses. Taking into account the clinical features and the presence of diabetes in four generations on the maternal side, screening for all MODY subtypes was performed. A mutation in the ABCC8 gene was found in proband and in his mother. After the insulin discontinuation, gliclazide modified release combined with sodium/glucose cotransporter 2 (SGLT2) inhibitors was started. This treatment eliminated hypoglycemia and improved glycemic variability parameters. A decrease in the amplitude of glucose excursions was documented by continuous glucose monitoring. After 3 months of treatment, glycemic control was still optimal, and no hypoglycemic episodes were observed. The case report demonstrates the clinical features of ABCC8-associated MODY and the therapeutic potential of a combination of sulfonylurea with SGLT2 inhibitor in this disease.Electronic supplementary materialThe online version of this article (doi:10.1007/s13300-016-0192-9) contains supplementary material, which is available to authorized users.

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Low Prevalence of HNF1A Mutations After Molecular Screening of Multiple MODY Genes in 58 Italian Families Recruited in the Pediatric or Adult Diabetes Clinic From a Single Italian Hospital

Cited by 26 publications

References 5 publications

Undiagnosed MODY: Time for Action

Undiagnosed MODY: Time for Action

Screening for monogenic diabetes in primary care

ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective

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