KCNE1 mutations cause Jervell and Lange-Nielsen syndrome

Schulze‐Bahr, Eric; Wang, Qing; Wedekind, Horst; Haverkamp, Wilhelm; Chen, Qiuyun; Sun, Yaling; Rubie, Claudia; Hördt, M.; Towbin, Jeffrey A.; Borggrefe, Martin; Assmann, Gerd; Qu, Xiangdong; Somberg, John C.; Breithardt, Günter; Oberti, Carlos; Funke, Harald

doi:10.1038/ng1197-267

Cited by 414 publications

(200 citation statements)

References 15 publications

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“…Both homozygosity for mutations in KVLQT1, 13,14 and compound heterozygosity for mutations in KCNE1 15 have been shown to cause JLNS. KVLQT1 and KCNE1 encode ion channel subunits which assemble in stria vascularis of the inner ear and are necessary to maintain the composition of the endolymph, 14 and the absence of a hearing defect in our family and that of the other recently described recessive RWS family, 10 is probably explained by the mutations not completely abolishing channel function.…”

Section: Discussionmentioning

confidence: 99%

Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene

et al. 1999

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We describe a Swedish family with the proband and his brother suffering from severe RomanoWard syndome (RWS) associated with compound heterozygosity for two mutations in the KVLQT1 (also known as KCNQ1 and KCNA9) gene (R518X and A525T). The mutations were found to segregate as heterozygotes in the maternal and the paternal lineage, respectively. None of the heterozygotes exhibited clinical long QT syndrome (LQTS). No hearing defects were found in the proband. The data strongly indicates that the compound heterozygosity for R518X and A525T is the cause of an autosomal recessive form of RWS in this family. Our findings support the implication of a higher frequency of gene carriers than previously expected. We suggest that relatives of 'sporadic RWS' patients should be considered potential carriers, at risk of dying suddenly from drug-induced LQTS.

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Section: Discussionmentioning

confidence: 99%

Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene

et al. 1999

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“…Isk encodes a transmembrane protein that assembles with potassium channel subunits including Kcnq1. Mutations in both KCNQ1 and KCNE1 cause Jervell and Lange-Nielsen syndrome in humans (Neyroud et al 1997;Schulze-Bahr et al 1997), a syndrome associated with ventricular tachyarrhythmias of the heart and deafness. Knockout mouse models for both genes show a collapsed membranous labyrinth indicative of endolymph secretion failure and disruption of fluid homeostasis in the inner ear (Vetter et al 1996;Lee et al 2000;Casimiro et al 2001).…”

Section: Genes That Affect Fluid Homeostasismentioning

confidence: 99%

Molecular Genetics of Vestibular Organ Development

Chang¹,

Cole²,

Cantos³

et al. 2004

The Vestibular System

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“…Mutations in KCNQ1 [15] and KCNE1 [19,20] are responsible also for the J-LN syndrome [21], when present as homozygous or compound heterozygous defects [22].…”

Section: Lqts Genesmentioning

confidence: 99%

The congenital long QT syndromes from genotype to phenotype: clinical implications

Schwartz

2005

Journal of Internal Medicine

210

125

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The long QT syndrome (LQTS) is a genetic disorder responsible for many sudden deaths before age 20. The identification of several LQTS genes, all encoding cardiac ion channels, has had a major impact on the management strategy for both patients and family members. Genotype-guided therapy allows more effective individually tailored therapy. Therapeutic options, including b-blockers, left cardiac sympathetic denervation, and implantable defibrillators are discussed for patients of known and of unknown genotype. The recent identification of modifier genes which amplify the effect of an LQTS mutation may change the approach to risk stratification.

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KCNE1 mutations cause Jervell and Lange-Nielsen syndrome

Cited by 414 publications

References 15 publications

Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene

Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene

Molecular Genetics of Vestibular Organ Development

The congenital long QT syndromes from genotype to phenotype: clinical implications

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