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From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome

2026-06-02

Abstract excerpt

<h4>Background: </h4> Cantú syndrome (OMIM #239850) is a rare autosomal dominant disorder caused by gain-of-function variants in ABCC9 or KCNJ8, which encode subunits of the ATP-sensitive potassium (K_ATP) channel. Its characteristic features—generalized hypertrichosis, coarse facial appearance, skeletal abnormalities, and cardiovascular involvement—may be overlooked when other major comorbidities dominate the cli...

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Literature Corpus work: e1b83c52-c921-5469-8798-705d16d83742
DOI: 10.20944/preprints202606.0147.v1

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