Transient neonatal diabetes mellitus 1

Common Name(s)

Transient neonatal diabetes mellitus 1

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates ({19:Shield, 2000}). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes ({606176}). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life ({2:Arthur et al., 1997}). The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; {17:Mackay et al., 2005}). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal Diabetes TNDM2 ({610374}) is caused by mutation in the ABCC8 gene ({600509}) on chromosome 11p15.1. TNDM3 ({610582}) is caused by mutation in the KCNJ11 gene ({600937}), also located on 11p15.1.
 

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