ArticleDiabetologia2011
Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
Article in Diabetologia, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Clinical and Genetic Characteristics ofJournal of diabetes research · 2021Pooled it
- Knowledge, Attitudes, and Practices in Neonatal Diabetes Mellitus Management: the JEnious-NeOnatal-DIabetes (JENODI) Survey.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2025Article
- The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.The Journal of clinical endocrinology and metabolism · 2024Article
- Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.Diabetic medicine : a journal of the British Diabetic Association · 2023Article
- The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.Journal of personalized medicine · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in TurkeyJournal of clinical research in pediatric endocrinology · 2021Article
- Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KFrontiers in endocrinology · 2021Article
- Genetic Spectrum of Neonatal Diabetes.Balkan journal of medical genetics : BJMG · 2020Article
- Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.BMJ open diabetes research & care · 2020Article
- [Multiple subcutaneous nodules for 46 days in an infant aged 66 days].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- New insights into KNature reviews. Endocrinology · 2020Review
- Article
- The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.Molecular genetics & genomic medicine · 2019Article
- Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.Orphanet journal of rare diseases · 2016Article
- Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.Journal of pediatric endocrinology & metabolism : JPEM · 2015Article
- Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation.Korean journal of pediatrics · 2015Article
- A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins.Diabetology & metabolic syndrome · 2015Article
- Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.Pediatric diabetes · 2013Article
- Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.Hormone research in paediatrics · 2013Review
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Authors and funding
20 authors at 11 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aims/hypothesisThe aim of this study was to investigate the genetic aetiology of permanent diabetes mellitus with onset in the first 12 months of age.
methodsWe studied 46 probands with permanent, insulin-requiring diabetes with onset within the first 6 months of life (permanent neonatal diabetes mellitus [PNDM]/monogenic diabetes of infancy [MDI]) (group 1) and eight participants with diabetes diagnosed between 7 and 12 months of age (group 2). KCNJ11, INS and ABCC8 genes were sequentially sequenced in all patients. For those who were negative in the initial screening, we examined ERN1, CHGA, CHGB and NKX6-1 genes and, in selected probands, CACNA1C, GCK, FOXP3, NEUROG3 and CDK4. The incidence rate for PNDM/MDI was calculated using a database of Italian patients collected from 1995 to 2009.
resultsIn group 1 we found mutations in KCNJ11, INS and ABCC8 genes in 23 (50%), 9 (19.5%) and 4 (8.6%) patients respectively, and a single homozygous mutation in GCK (2.1%). In group 2, we identified one incidence of a KCNJ11 mutation. No genetic defects were detected in other loci. The incidence rate of PNDM/MDI in Italy is estimated to be 1:210,287. CONCLUSIONS/
interpretationGenetic mutations were identified in ~75% of non-consanguineous probands with PNDM/MDI, using sequential screening of KCNJ11, INS and ABCC8 genes in infants diagnosed within the first 6 months of age. This percentage decreased to 12% in those with diabetes diagnosed between 7 and 12 months. Patients belonging to the latter group may either carry mutations in genes different from those commonly found in PNDM/MDI or have developed an early-onset form of autoimmune diabetes.
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