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

被引：76

作者：

Brownstein, Catherine A. ^{[1
]}

Towne, Meghan C. ^{[1
]}

Luquette, Lovelace J. ^{[2
]}

Harris, David J. ^{[1
]}

Marinakis, Nicholas S. ^{[1
]}

Meinecke, Peter ^{[3
]}

Kutsche, Kerstin ^{[3
]}

Campeau, Philippe M. ^{[4
]}

Yu, Timothy W. ^{[1
]}

Margulies, David M. ^{[1
]}

Agrawal, Pankaj B. ^{[1
]}

Beggs, Alan H. ^{[1
]}

机构：

[1] Harvard Univ, Div Genet & Gen, Boston Childrens Hosp, Sch Med,Manton Ctr Orphan Dis Res, Boston, MA USA

[2] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA USA

[3] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

[4] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2013年 / 56卷 / 12期

基金：

美国国家卫生研究院;

关键词：

Cantu syndrome; Mutation; Exome; Potassium channel; K-ATP CHANNELS; POTASSIUM CHANNELS; SULFONYLUREA RECEPTOR; SUBUNIT; CLONING; MUSCLE; ABCC9;

D O I：

10.1016/j.ejmg.2013.09.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (K-ATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death. Recently, the K-ATP gene ABCC9 (SUR2, NM_020297) has been associated with the multi-organ disorder Cantu 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 Cantu syndrome, who tested negative for mutations in ABCC9. The genotype and multi-organ abnormalities of this patient are reviewed. A careful screening of the K-ATP genes should be performed in all individuals diagnosed with Cantu syndrome and no mutation in ABCC9. (C) 2013 Elsevier Masson SAS. All rights reserved.

引用

页码：678 / 682

页数：5

共 2 条

[1] Cantu Syndrome Resulting from Activating Mutation in the KCNJ8 Gene
Cooper, Paige E.
Reutter, Heiko
Woelfle, Joachim
Engels, Hartmut
Grange, Dorothy K.
van Haaften, Gijs
van Bon, Bregje W.
Hoischen, Alexander
Nichols, Colin G.
HUMAN MUTATION, 2014, 35 (07) : 809 - 813
[2] Cantu syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature
Apuril Velgara, Erika Solansh
Mariani, Milena
Torella, Annalaura
Musacchia, Francesco
Nigro, Vincenzo
Selicorni, Angelo
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (06) : 1661 - 1666

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