Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012

Delvecchio, Maurizio; Mozzillo, Enza; Salzano, Giuseppina; Iafusco, Dario; Frontino, Giulio; Patera, Patrizia Ippolita; Rabbone, Ivana; Cherubini, Valentino; Grasso, V.; Tinto, Nadia; Giglio, Sabrina; Contreas, Giovanna; Paola, Rosa Di; Salina, Alessandro; Cauvin, Vittoria; Tumini, Stefano; d’Annunzio, Giuseppe; Iughetti, Lorenzo; Mantovani, Vilma; Maltoni, Giulio; Toni, Sonia; Marigliano, Marco; Barbetti, Fabrizio

doi:10.1210/jc.2016-2490

Cited by 92 publications

(78 citation statements)

References 31 publications

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“…The prevalence of mutation positive MODY is 3.2% (24/759) in our study population of pediatric diabetes ≤18 years. The rate we have identified is similar to other studies of pediatric populations in Norway (1.1%), the United States (1.2%), the United Kingdom (2.5%) and Poland (3.1%‐4.2%) but much lower than that reported in Italy (5.5%) . There are few data on the prevalence of MODY in the Asian pediatric diabetes population.…”

Section: Discussionsupporting

confidence: 85%

“…Most of the mutations (83%) we identified were in the GCK gene, a rate that is similar to two European studies of pediatric patients with MODY, namely, the Polish study (83%) and the Italian study (86%) . In one study in Japan, GCK mutations were identified at a higher frequency (63.6%) in patients aged <8 years and less frequently (45.1%) in patients >9 years of age .…”

Section: Discussionsupporting

confidence: 82%

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Molecular diagnosis of maturity‐onset diabetes of the young in a cohort of Chinese children

Lin

Sheng

et al. 2020

Pediatr Diabetes

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Objective: The purpose of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by whole-exome sequencing (WES) and estimate the frequency and describe the clinical characteristics of MODY in southern China. Methods: Genetic analysis was performed in 42 patients with MODY aged 1 month to 18 years among a cohort of 759 patients with diabetes, identified with the following four clinical criteria: age of diagnosis ≤18 years; negative pancreatic autoantibodies; family history of diabetes; or persistently detectable C-peptide; or diabetes associated with extrapancreatic features. GCK gene mutations were first screened by Sanger sequencing. GCK mutation-negative patients were further analyzed by WES. Results: Mutations were identified in 24 patients: 20 mutations in GCK, 1 in HNF4A, 1 in INS, 1 in ABCC8, and a 17q12 microdeletion. Four previously unpublished novel GCK mutations: c.1108G>C in exon 9, and c.1339C>T, c.1288_1290delCTG, and c.1340_1343delGGGGinsCTGGTCT in exon 10 were detected. WES identified a novel missense mutation c.311A>G in exon 3 in the INS gene, and copy number variation analysis detected a 1.4 Mb microdeletion in the long arm of the chromosome 17q12 region. Compared with mutation-negative subjects, the mutation-positive subjects had lower hemoglobin A1c and initial blood glucose levels. Conclusions: Most MODY cases in this study were due to GCK mutations, which is in contrast to previous reports in Chinese patients. Diabetes associated with extrapancreatic features should be a clinical criterion for MODY genetic analysis. Mutational analysis by WES provided a precise diagnosis of MODY subtypes. Moreover, WES can be useful for detecting large deletions in coding regions in addition to point mutations. K E Y W O R D S childhood, maturity-onset diabetes of the young, South China, whole-exome sequencing Aijing Xu and Yunting Lin contribute equally to this work.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionsupporting

confidence: 82%

Molecular diagnosis of maturity‐onset diabetes of the young in a cohort of Chinese children

Lin

Sheng

et al. 2020

Pediatr Diabetes

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“…These facts, along with a widespread lack of awareness, hinder clinical diagnosis so that the majority of children with genetically proven monogenic diabetes are initially misdiagnosed as having type 1 or type 2 diabetes . Although monogenic diabetes is uncommon, it accounts for 1% to 6% of pediatric diabetes cases …”

Section: Introductionmentioning

confidence: 99%

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

et al. 2018

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“…Autoantibody-negative patients are classified as having "idiopathic T1D", or type 1B, which may include patients with autoimmune diabetes lacking measurable autoantibody responses to common autoantigens 11 as well as patients with rare forms of monogenic diabetes, 12,13 in addition to autoantibody false negatives.…”

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confidence: 99%

Genetics of type 1 diabetes

Steck²,

2017

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Type 1 diabetes (T1D) results from immune-mediated loss of pancreatic beta cells leading to insulin deficiency. It is the most common form of diabetes in children, and its incidence is on the rise. This article reviews the current knowledge on the genetics of T1D. In particular, we discuss the influence of HLA and non-HLA genes on T1D risk and disease progression through the preclinical stages of the disease, and the development of genetic scores that can be applied to disease prediction. Racial/ethnic differences, challenges and future directions in the genetics of T1D are also discussed.

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Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012

Cited by 92 publications

References 31 publications

Molecular diagnosis of maturity‐onset diabetes of the young in a cohort of Chinese children

Molecular diagnosis of maturity‐onset diabetes of the young in a cohort of Chinese children

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Genetics of type 1 diabetes

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