Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. / Brownstein, Catherine A; Towne, Meghan C; Luquette, Lovelace J; Harris, David J; Marinakis, Nicholas S; Meinecke, Peter; Kutsche, Kerstin; Campeau, Philippe M; Yu, Timothy W; Margulies, David M; Agrawal, Pankaj B; Beggs, Alan H.
In: EUR J MED GENET, Vol. 56, No. 12, 01.12.2013, p. 678-82.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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T1 - Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
AU - Brownstein, Catherine A
AU - Towne, Meghan C
AU - Luquette, Lovelace J
AU - Harris, David J
AU - Marinakis, Nicholas S
AU - Meinecke, Peter
AU - Kutsche, Kerstin
AU - Campeau, Philippe M
AU - Yu, Timothy W
AU - Margulies, David M
AU - Agrawal, Pankaj B
AU - Beggs, Alan H
N1 - Copyright © 2013 Elsevier Masson SAS. All rights reserved.
PY - 2013/12/1
Y1 - 2013/12/1
N2 - 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.
AB - 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.
U2 - 10.1016/j.ejmg.2013.09.009
DO - 10.1016/j.ejmg.2013.09.009
M3 - SCORING: Journal article
C2 - 24176758
VL - 56
SP - 678
EP - 682
JO - EUR J MED GENET
JF - EUR J MED GENET
SN - 1769-7212
IS - 12
ER -