Case reports compile clinical consequences of ABCC9 variants in individuals, highlighting critical insights into the syndrome.
The ABCC9 gene encodes the widely expressed SUR2 subunit of ATP-sensitive potassium (KATP) channels. Autosomal recessive loss-of-function variants in ABCC9 cause ABCC9-related Intellectual disability and Myopathy Syndrome (AIMS). Here, we sought to compile multiple case reports from previously unidentified individuals with the primary objective of further establishing the clinical consequences of ABCC9 variants.
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Nagaraj et al. (2026) studied this question.
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