disease:Defects in ZFP57 are the cause of transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410]. Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. 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. The major cause of TNDM1 is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the transient neonatal diabetes differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene. Over 50% of individuals with transient neonatal diabetes and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features.,domain:The KRAB domain

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