PubMed 24176758

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Kir6.1

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

Authors: Catherine A Brownstein, Meghan C Towne, Lovelace J Luquette, David J Harris, Nicholas S Marinakis, Peter Meinecke, Kerstin Kutsche, Philippe M Campeau, Timothy W Yu, David M Margulies, Pankaj B Agrawal, Alan H Beggs

Journal, date & volume: Eur J Med Genet, 2013 Dec , 56, 678-82

PubMed link:

KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (KATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death. Recently, the KATP 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 report on a patient with a de novo nonsynonymous KCNJ8 SNV (p.V65M) and Cantú syndrome, who tested negative for mutations in ABCC9. The genotype and multi-organ abnormalities of this patient are reviewed. A careful screening of the KATP genes should be performed in all individuals diagnosed with Cantú syndrome and no mutation in ABCC9.