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The Homozygous KCNQ1 Gene Mutation Associated with Recessive Romano–Ward Syndrome
Author(s) -
NOVOTNY TOMAS,
KADLECOVA JITKA,
JANOUSEK JAN,
GAILLYOVA RENATA,
BITTNEROVA ALEXANDRA,
FLORIANOVA ALENA,
SISAKOVA MARTINA,
TOMAN ONDREJ,
CHROUST KAREL,
PAPOUSEK IVO,
SPINAR JINDRICH
Publication year - 2006
Publication title -
pacing and clinical electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.686
H-Index - 101
eISSN - 1540-8159
pISSN - 0147-8389
DOI - 10.1111/j.1540-8159.2006.00478.x
Subject(s) - medicine , genetics , mutation , gene , biology
In a 7‐year‐old boy with normal hearing suffering from repeated syncope an extremely prolonged QT c interval (up to 700 ms) was found. The mother was completely asymptomatic and the father had an intermittently borderline QT c 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.