A Duplication Mutation in KCNQ1 Gene in Romano-Ward Syndrome

Salih Coskun, Yasar Yildirim, Abdullah Cim, Yahya Islamoglu, Umut Altunoglu, Z Oya Uyguner, Osman Gokalp
1.398 290

Öz


Romano-Ward sendromu (RWS, Uzun QT sendromu 1) EKG’de uzamış QT aralığı ile karakterize bir ailevi konjenital kalp hastalığıdır. RWS KCNQ1 genindeki mutasyonlarla oluşabilmektedir. 27 yaşındaki erkek hastamızda senkop öncesi göğüs ağrıları ve efor sonrası senkop atakları vardı. EKG’de 660 milisaniyeyi bulan QT intervalleri vardı. Sekans analizinde 262-263. aminoasitler arasına giren 4 (QRQK) aminoasit ile oluşan ve çerçeve kayması yapmayan 12 bazlık bir heterozigot mutasyon tespit edildi. Hastaya metoprolol reçete edildi ve cardioverter defibrilatör implante edildi. Takiplerin ardından hasta taburcu edildi. In this case, new twelve-base duplication was identified in KCNQ1 (potassium voltage-gated channel, NM_000218.2) gene which has not been described KQT-like subfamily, member 1

Anahtar kelimeler


Long QT syndrome, KCNQ1, Romano-Ward syndrome

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Referanslar


Jackson H, McIntosh S, Whittome B, et al. LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function. Clin Genet. 2013Jul 11.doi:10.1111/cge.12235.

Schwartz PJ, Stramba-Badiale M, Crotti L, et al. Prevalence of the congenital long-QT syndrome. Circulation. 2009;120:1761-7.

Jongbloed R, Wilde A, Geelen J, et al. Novel KCNQ1 and HERG missense mutations in Dutch long‐QT families. Human mutation. 1999;13:301-10.

Goldenberg I, Zareba W, Moss AJ. Long QT Syndrome. Curr Probl Cardiol. 2008;33:629-94.

Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the QT interval, and sudden death. American heart journal. 1957;54:59-68.

Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation. 2011;124:2181-4.

Kapplinger JD, Tester DJ, Salisbury BA, et al. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009;6:1297-303.

Keating MT, Sanguinetti MC. Molecular and cellular mechanisms of cardiac arrhythmias. Cell. 2001;104:569-80.

Sanguinetti MC, Curran ME, Zou A, et al. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature. 1996;384:80-3.

Burgess DE, Bartos DC, Reloj AR, et al. High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation. Biochemistry. 2012;51:9076-85.

Zhang T, Moss A, Cong P, et al. LQTS gene LOVD database. Hum Mutat. 2010;31:E1801-10.




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