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last update : 20-06-2016
Symbol PNDM2
Location 11p15.1
Name permanent neonatal diabetes mellitus 2
Other name(s) transient neonatal diabetes mellitus
Corresponding gene ABCC8
Other symbol(s) DEND, TNDM
Main clinical features insulin-requiring hyperglycemia within the first 3 months of life, diabetes transient and resolving at a median age of 3 months, in about half of the neonates, whereas the rest have a permanent insulin-dependent form of diabetes
Genetic determination not applicable
Prevalence 1 in 400,000 neonates
Related entries including developmental delay, epilepsy, and neonatal diabetes (DEND syndrome)
Function/system disorder endocrinology
mental retardation
Type disease
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/gain of function I1424V and H1023Y channels overactivating beta-cell K channels and increasing the magnesium -nucleotide-dependent stimulatory action of ABCC8 on the pore
Remark(s) . two mutations on Transmembrane Helix 15 of ABCC8 Increase Affinity for ATP and ADP at Nucleotide Binding Domain 2 (PMID: 22451668))
Genotype/Phenotype correlations
  • PNDM2 resulting from compound heterozygous activating/inactivating mutations, the loss-of-function mutation leads to a decrease in functional protein, and the channels are essentially homomeric for the activating ABCC8 mutation
  • mutation (R826W) in the first nucleotide-binding domain (NBD1), decreasing MgATP hydrolysis, reducing ATPase activity and leading to transient neonatal diabetes