ArticleMolecular genetics & genomic medicine2019
The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 29 citations in OpenAlex.
- Expert consensus on the off-label use of drugs for pediatric rare diseases in China (2025 edition).Translational pediatrics · 2025Review
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- 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
- A RareInternational journal of endocrinology and metabolism · 2025Article
- Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 2024Review
- Insulin Delivery Technology for Treatment of Infants with Neonatal Diabetes Mellitus: A Systematic Review.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2024Review
- The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.The Journal of clinical endocrinology and metabolism · 2024Article
- Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.Pediatric diabetes · 2024Article
- Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.Journal of diabetes investigation · 2024Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt.Annals of pediatric endocrinology & metabolism · 2022Article
- Case report: A 10-year prognosis of neonatal diabetes caused by a novelFrontiers in endocrinology · 2022Article
- Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia.Frontiers in pediatrics · 2022Article
- Epidemiology, genetic landscape and classification of childhood diabetes mellitus in the State of Qatar.Journal of diabetes investigation · 2021Article
- Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?Heliyon · 2021Review
- Modeling different types of diabetes using human pluripotent stem cells.Cellular and molecular life sciences : CMLS · 2021Review
- Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.The Journal of clinical endocrinology and metabolism · 2020Article
- Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.Hormone research in paediatrics · 2020Article
- The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeonatal diabetes mellitus (NDM) is a rare condition that occurs within the first six months of life. Permanent NDM (PNDM) is caused by mutations in specific genes that are known for their expression at early and/or late stages of pancreatic beta- cell development, and are either involved in beta-cell survival, insulin processing, regulation, and release. The native population in Qatar continues to practice consanguineous marriages that lead to a high level of homozygosity. To our knowledge, there is no previous report on the genomics of NDM among the Qatari population. The aims of the current study are to identify patients with NDM diagnosed between 2001 and 2016, and examine their clinical and genetic characteristics.
methodsTo calculate the incidence of PNDM, all patients with PNDM diagnosed between 2001 and 2016 were compared to the total number of live births over the 16-year-period. Whole Genome Sequencing (WGS) was used to investigate the genetic etiology in the PNDM cohort.
resultsPNDM was diagnosed in nine (n = 9) patients with an estimated incidence rate of 1:22,938 live births among the indigenous Qatari. Seven different mutations in six genes (PTF1A, GCK, SLC2A2, EIF2AK3, INS, and HNF1B) were identified. In the majority of cases, the genetic etiology was part of a previously identified autosomal recessive disorder. Two novel de novo mutations were identified in INS and HNF1B.
conclusionQatar has the second highest reported incidence of PNDM worldwide. A majority of PNDM cases present as rare familial autosomal recessive disorders. Pancreas associated transcription factor 1a (PTF1A) enhancer deletions are the most common cause of PNDM in Qatar, with only a few previous cases reported in the literature.
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