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.
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.
authors.affiliation: Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: catherine.brownstein@childrens.harvard.edu.
authors.forename: Catherine A
authors.initials: CA
authors.lastname: Brownstein
authors.forename: Meghan C
authors.initials: MC
authors.lastname: Towne
authors.forename: Lovelace J
authors.initials: LJ
authors.lastname: Luquette
authors.forename: David J
authors.initials: DJ
authors.lastname: Harris
authors.forename: Nicholas S
authors.initials: NS
authors.lastname: Marinakis
authors.forename: Peter
authors.initials: P
authors.lastname: Meinecke
authors.forename: Kerstin
authors.initials: K
authors.lastname: Kutsche
authors.forename: Philippe M
authors.initials: PM
authors.lastname: Campeau
authors.forename: Timothy W
authors.initials: TW
authors.lastname: Yu
authors.forename: David M
authors.initials: DM
authors.lastname: Margulies
authors.forename: Pankaj B
authors.initials: PB
authors.lastname: Agrawal
authors.forename: Alan H
authors.initials: AH
authors.lastname: Beggs
mesh_terms: D006332:Cardiomegaly / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006983:Hypertrichosis / Q000175:diagnosis / Q000235:genetics*; D054086:KATP Channels / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D064233:Sulfonylurea Receptors / Q000235:genetics
chemical_list: C577510:ABCC9 protein, human; D054086:KATP Channels; D064233:Sulfonylurea Receptors; C092520:uK-ATP-1 potassium channel
keywords: Cantú syndrome; Exome; Mutation; Potassium channel