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

  • 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

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Abstract

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.

Bibliographical data

Original languageEnglish
DOIs
Publication statusPublished - 01.12.2013
PubMed 24176758