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Abstract

October - December 2024 | Vol. 17 | Issue 4 | 17-23
Genetics of Neonatal Diabetes: An Update
Aysha Kabeer, Sankar VH
Department of Pediatrics, SAT Hospital, Thiruvananthapuram, Kerala, India
Address for Correspondence Email: sankarvh@gmail.com
 
Abstract
Neonatal diabetes mellitus (NDM) is defined as persistent hyperglycemia in infants within the first six months of life or rarely within one year of life, along with absent or insufficient circulating insulin. It can be either transient or permanent diabetes, depending on the duration of insulin requirement. Transient NDM is frequently associated with aberrations of 6q24 locus resulting in overexpression of imprinted genes. Other pathogenic variations which cause transient NDM are activating mutations of KATP channel-related genes (ABCC8 and KCNJ11), and insulin (INS) and ZFP57 gene mutations. Permanent NDM is caused by a wide range of pathogenic variants causing beta cell functional defects, endocrine pancreas development abnormality, and beta cell destruction which is either immune mediated or secondary to endoplasmic reticulum stress. Most common pathogenic variants associated with permanent NDM are KCNJ11, ABCC8, INS, GCK and PDX1 mutations. Several syndromic variants with extra-pancreatic features are also described to cause neonatal diabetes. Molecular genetic testing is important for prognostication, to decide on the appropriate therapeutic option (insulin or sulfonylureas) and for genetic counselling.
 
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