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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

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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, Jahrgang 56, Nr. 12, 01.12.2013, S. 678-82.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Brownstein, CA, Towne, MC, Luquette, LJ, Harris, DJ, Marinakis, NS, Meinecke, P, Kutsche, K, Campeau, PM, Yu, TW, Margulies, DM, Agrawal, PB & Beggs, AH 2013, 'Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition', EUR J MED GENET, Jg. 56, Nr. 12, S. 678-82. https://doi.org/10.1016/j.ejmg.2013.09.009

APA

Brownstein, C. A., Towne, M. C., Luquette, L. J., Harris, D. J., Marinakis, N. S., Meinecke, P., Kutsche, K., Campeau, P. M., Yu, T. W., Margulies, D. M., Agrawal, P. B., & Beggs, A. H. (2013). Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. EUR J MED GENET, 56(12), 678-82. https://doi.org/10.1016/j.ejmg.2013.09.009

Vancouver

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P et al. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. EUR J MED GENET. 2013 Dez 1;56(12):678-82. https://doi.org/10.1016/j.ejmg.2013.09.009

Bibtex

@article{94a0dce569174100ac578c61a8f9a74f,
title = "Mutation of KCNJ8 in a patient with Cant{\'u} 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 Cant{\'u} 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 Cant{\'u} 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 Cant{\'u} syndrome and no mutation in ABCC9.",
author = "Brownstein, {Catherine A} and Towne, {Meghan C} and Luquette, {Lovelace J} and Harris, {David J} and Marinakis, {Nicholas S} and Peter Meinecke and Kerstin Kutsche and Campeau, {Philippe M} and Yu, {Timothy W} and Margulies, {David M} and Agrawal, {Pankaj B} and Beggs, {Alan H}",
note = "Copyright {\textcopyright} 2013 Elsevier Masson SAS. All rights reserved.",
year = "2013",
month = dec,
day = "1",
doi = "10.1016/j.ejmg.2013.09.009",
language = "English",
volume = "56",
pages = "678--82",
journal = "EUR J MED GENET",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "12",

}

RIS

TY - JOUR

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 -