ArticleJournal of pediatric endocrinology & metabolism : JPEM2018
Genetic mutations associated with neonatal diabetes mellitus in Omani patients.
Article in Journal of pediatric endocrinology & metabolism : JPEM, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- A Systematic Review of Childhood Diabetes Research in the Middle East Region.Frontiers in endocrinology · 2019Pooled it
- Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.Diabetes · 2026Article
- Long-Term Seizure and Neurodevelopmental Outcomes of Three Children with Developmental Delay, Epilepsy, and Neonatal Diabetes (DEND) Syndrome after Early Initiation of Sulphonylurea.Annals of Indian Academy of Neurology · 2025Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?Heliyon · 2021Review
- Genetics of Monogenic Diabetes: Present Clinical Challenges.Current diabetes reports · 2018Review
- Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.Current diabetes reports · 2018Review
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundNeonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM.
methodsIn this study, we investigated the genetic etiologies underlying NDM and their prevalence in Oman. We collected a cohort of 24 NDM patients, with and without genetic diagnosis, referred to our center from 2007 to 2015. All patients without a genetic diagnosis were tested for mutations in 23 NDM-associated genes using a custom-targeted next-generation sequencing (NGS) panel and methylation analysis of the 6q24 locus.
resultsA genetic abnormality was detected in 15/24 (62.5%) of our Omani NDM patients. We report the detection of 6q24 methylation abnormalities and KCNJ11 mutations for the first time in Omani NDM patients. Unlike Western populations where NDM is predominantly due to mutations in the KCNJ11, ABCC8 and INS genes, NDM due to homozygous GCK gene mutations were most prevalent in Oman, having been observed in seven out of 15 NDM patients in whom we established the genetic etiology. This reflects the high degree of consanguinity which makes recessive conditions more likely.
conclusionsThe results of this study are likely to impact any future strategy to introduce genetic testing for NDM disorders within the national healthcare system in Oman.
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