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The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome

T Novotny, J Kadlecova, J Janousek, R Gaillyova, A Bittnerova, A Florianova, M Sisakova, O Toman, K Chroust, I Papousek, J Spinar

. 2006 ; 29 (9) : 1013-1015.

Language English Country United States

Document type Case Reports, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc13029941

Grant support
NR8071 MZ0 CEP Register
NR8063 MZ0 CEP Register

In a 7-year-old boy with normal hearing suffering from repeated syncope an extremely prolonged QTc interval (up to 700 ms) was found. The mother was completely asymptomatic and the father had an intermittently borderline QTc interval (maximum 470 ms) but no symptoms. In the proband a mutation analysis of KCNQ1 gene revealed a homozygous 1893insC mutation. The parents were heterozygous for this mutation. There was no consanguineous marriage in the family. The clinical relevance of these findings is that apparently normal individuals may have a latent reduction of repolarizing currents, a "reduced repolarization reserve," because they are carriers of latent ion channel genes mutations.

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Literatura

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$a In a 7-year-old boy with normal hearing suffering from repeated syncope an extremely prolonged QTc interval (up to 700 ms) was found. The mother was completely asymptomatic and the father had an intermittently borderline QTc interval (maximum 470 ms) but no symptoms. In the proband a mutation analysis of KCNQ1 gene revealed a homozygous 1893insC mutation. The parents were heterozygous for this mutation. There was no consanguineous marriage in the family. The clinical relevance of these findings is that apparently normal individuals may have a latent reduction of repolarizing currents, a "reduced repolarization reserve," because they are carriers of latent ion channel genes mutations.
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$a Kadlecová, Jitka $7 xx0083037 $u Department of Mecical Genetics, University Hospital Brno, Brno, Czech Republic
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$a Janoušek, Jan, $d 1956- $7 jo2003180379 $u Kardiocentrum, University Hospital Motol, Prague, Czech Republic
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$a Gaillyová, Renata, $d 1957- $7 jo20010084782 $u Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic
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$a Bittnerová, Alexandra $7 xx0083038 $u Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic
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$a Floriánová, Alena $7 xx0082235 $u Department of Internal Medicine and Cardiology, University Hospital Brno, Brno, Czech Republic
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$a Šišáková, Martina $7 xx0082233 $u Department of Internal Medicine and Cardiology, University Hospital Brno, Brno, Czech Republic
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$a Chroust, Karel, $d 1962- $7 xx0083036 $u Department of Genetics and Molecular Biology, Faculty of Science, Masaryk University, Brno, Czech Republic
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$a Špinar, Jindřich, $d 1960- $7 nlk20030128322 $u Department of Internal Medicine and Cardiology, University Hospital Brno, Brno, Czech Republic
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