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Mutations in genes encoding K ATP  channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are homozygous for a splice-site mutation in  ABCC9  (c.1320 + 1 G > A), which encodes the sulfonylurea receptor 2 (SUR2) subunit of K ATP  channels. This mutation results in an in-frame deletion of exon 8, which results in non-functional K ATP  channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing K ATP  channels  ABCC9 -related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function  ABCC9  mutations, reflecting the opposing consequences of K ATP  loss- versus gain-of-function.

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9