Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities–support for the role of K (ATP) channels in this condition
CA Brownstein, MC Towne, LJ Luquette… - European journal of …, 2013 - Elsevier
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 Cantú syndrome or hypertrichotic osteochondrodysplasia (MIM
239850)(hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly). Here, we …
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 Cantú syndrome or hypertrichotic osteochondrodysplasia (MIM
239850)(hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly). Here, we …