Mutation of the Gene for I sK Associated With Both Jervell and Lange-Nielsen and Romano-Ward Forms of Long-QT Syndrome
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چکیده
منابع مشابه
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
BACKGROUND Long-QT syndrome (LQTS) is a disorder of ventricular repolarization characterized by a prolonged QT interval, syncope, seizures, and sudden death. Recently, three forms of LQTS have been shown to result from mutations in potassium or sodium ion channel genes: KVLQT1 for LQT1, HERG for LQT2, and SCN5A for LQT3. IsK, an apparent potassium channel subunit encoded by KCNE1 on chromosome ...
متن کاملNovel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
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Institut de Pharmacologie Moléculaire et Cellulaire, CNRS, 660 route orders at the molecular level. des Lucioles, Sophia Antipolis, 06560 Valbonne and 1INSERM U153, A recent flurry of publications described multiple Groupe Hospitalier Pitié-Salpêtrière, Institut de Myologie, mutations within two K channel genes that cause the 47 boulevard de l’Hôpital, 75651 Paris Cedex, France RW and JLN syndr...
متن کاملCellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano–Ward syndrome
As a result of cell-specific functions of voltage-activated K(+) channels, such as Kv7.1, mutations in this channel produce profound cardiac and auditory defects. At the same time, the massive diversity of K(+) channels allows for compensatory substitution of mutant channels by other functional channels of their type to minimize defective phenotypes. Kv7.1 represents a clear example of such fun...
متن کاملJervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive cardioauditory ion channel disorder characterized by congenital bilateral sensorineural deafness and long QT interval. JLNS is a ventricular repolarization abnormality and is caused by mutations in the KCNQ1 or KCNE1 gene. It has a high mortality rate in childhood due to ventricular tachyarrhythmias, episodes of torsade de poin...
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ژورنال
عنوان ژورنال: Circulation
سال: 1998
ISSN: 0009-7322,1524-4539
DOI: 10.1161/01.cir.97.2.142