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

ABSTRACT: 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 dysfu

SUBMITTER: Smeland MF 

PROVIDER: S-EPMC6773855 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature