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

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• 作者：Catherine A. Brownstein ; Meghan C. Towne ; Lovelace J. Luquette ; David J. Harris ; Nicholas S. Marinakis ; Peter Meinecke ; Kerstin Kutsche ; Philippe M. Campeau ; Timothy W. Yu ; David M. Margulies ; Pankaj B. Agrawal ; Alan H. Beggs
• 关键词：Cantú ; syndrome ; Mutation ; Exome ; Potassium channel
• 刊名：European Journal of Medical Genetics
• 出版年：December, 2013
• 年：2013
• 卷：56
• 期：12
• 页码：678-682
• 全文大小：1215 K

文摘

KCNJ8 () encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (Kb>ATPb>) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death. Recently, the Kb>ATPb> gene ABCC9 (SUR2, ) has been associated with the multi-organ disorder Cant煤 syndrome or hypertrichotic osteochondrodysplasia (MIM ) (hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly). Here, we report on a patient with a de novo nonsynonymous KCNJ8 SNV (p.V65M) and Cant煤 syndrome, who tested negative for mutations in ABCC9. The genotype and multi-organ abnormalities of this patient are reviewed. A careful screening of the Kb>ATPb> genes should be performed in all individuals diagnosed with Cant煤 syndrome and no mutation in ABCC9.