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：78

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

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