Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Abstract KCNJ8 ( NM_004982 ) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (K ATP ) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death. Recently, the K ATP gene ABCC9 (SUR2, NM_020297 ) has been associated with the multi-organ disorder Cantu syndrome or hypertrichotic osteochondrodysplasia (MIM 239850 ) (hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly). Here, we report on a patient with a de novo nonsynonymous KCNJ8 SNV (p.V65M) and Cantu syndrome, who tested negative for mutations in ABCC9 . The genotype and multi-organ abnormalities of this patient are reviewed. A careful screening of the K ATP genes should be performed in all individuals diagnosed with Cantu syndrome and no mutation in ABCC9 .