Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings

Kamoun, T.; Chabchoub, I.; Ameur, S. Ben; Kmiha, Sana; Aloulou, Hajer; Cavé, Hélène; Polak, Michel; Hachicha, M.

doi:10.1016/j.arcped.2017.02.021

Cited by 3 publications

(1 citation statement)

References 10 publications

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“…Among the 14 known MODY genes, 6 of them (ABCC8, INS, GCK, HNF4A, KCNJ11, and PAX4) were reported in African patients. ABCC8, INS, and GCK were reported from Egypt [23][24][25], HNF4A and PAX4 from Tunisia [44,45], and KCNJ11 from Egypt [28,46], Tunisia [30], and Uganda [47]. Pathogenic variants were found in 4 out of the 6 genes and these are ABCC8, GCK, INS, and KCNJ11.…”

Section: Discussionmentioning

confidence: 99%

Early-onset diabetes in Africa: A mini-review of the current genetic profile

Adadey,

Mensah,

Acquah

et al. 2023

Preprint

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Early-onset diabetes is poorly diagnosed partly due to its heterogeneity and variable presentations. Although several genes have been associated with the disease, these genes are not well studied in Africa. We sought to identify the major neonatal, early childhood, juvenile, or early-onset diabetes genes in Africa; and evaluate the available molecular methods used for investigating these gene variants. A literature search was conducted on PubMed, Scopus, Africa-Wide Information, and Web of Science databases. The retrieved records were screened and analyzed to identify genetic variants associated with early-onset diabetes. Although 319 records were retrieved, 32 were considered for the current review. Most of these records (22/32) were from North Africa. The disease condition was genetically heterogenous with most cases possessing unique gene variants. We identified 22 genes associated with early-onset diabetes, 9 of which had variants (n=19) classified as pathogenic or likely pathogenic (PLP). Among the PLP variants,IER3IP1: p.(Leu78Pro) was the variant with the highest number of cases. There was limited data from West Africa, hence the contribution of genetic variability to early-onset diabetes in Africa could not be comprehensively evaluated. It is worth mentioning that most studies were focused on natural products as antidiabetics and only a few studies reported on the genetics of the disease.ABCC8andKCNJ11were implicated as major contributors to early-onset diabetes gene networks. Gene ontology analysis of the network associated ion channels, impaired glucose tolerance, and decreased insulin secretions to the disease. Our review highlights 9 genes from which PLP variants have been identified and can be considered for the development of an African diagnostic panel. There is a gap in early-onset diabetes genetic research from sub-Saharan Africa which is much needed to develop a comprehensive, efficient, and cost-effective genetic panel that will be useful in clinical practice on the continent and among the African diasporas.

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Section: Discussionmentioning

confidence: 99%

Early-onset diabetes in Africa: A mini-review of the current genetic profile

Adadey,

Mensah,

Acquah

et al. 2023

Preprint

View full text Add to dashboard Cite

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Early-onset diabetes in Africa: A mini-review of the current genetic profile

Adadey,

Mensah,

Acquah

et al. 2023

European Journal of Medical Genetics

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Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care

Zammit¹,

Agius²,

Calleja‐Agius³

2017

Neonatal Network

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Transient neonatal diabetes mellitus (TNDM) is a rare disorder, with a reported incidence of approximately 1 in 450,000 live births. It is characterized by insulin-requiring hyperglycemia in the neonatal period. The disease improves by early childhood, but the patient may relapse in later life. Diagnosis is made after genetic testing following presentation with hyperglycemia not conforming to Type 1 or Type 2 diabetes. Management is based on insulin and possible sulfonylurea administration. Three genetically distinct subtypes of TNDM are recognized. Type 1 TNDM is due to overexpression of genes at the 6q24 locus, whereas the 11p15 locus is involved in Type 2 and 3 TNDM. In this article the clinical presentation, management, and genetics of TNDM are discussed, particularly emphasizing the role of the neonatal nurse.

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Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings

Cited by 3 publications

References 10 publications

Early-onset diabetes in Africa: A mini-review of the current genetic profile

Early-onset diabetes in Africa: A mini-review of the current genetic profile

Early-onset diabetes in Africa: A mini-review of the current genetic profile

Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care

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