Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Truncation of the protein proximal to the recently identified C-terminal assembly domain is expected to preclude assembly of KCNQ1 monomers into tetramers and explains the recessive inheritance of JLNS.
|
11140949 |
2000 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified and characterized two novel KCNQ1 mutations that caused JLNS.
|
21380488 |
2011 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS.
|
27041150 |
2016 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide.
|
24552659 |
2014 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report.
|
29037160 |
2017 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause JLNS.
|
14510661 |
2003 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified compound heterozygous mutations in KCNQ1 in a 5-yr-old child with JLNS, who visited the hospital due to recurrent syncope and seizures and had congenital sensorineural deafness.
|
20890437 |
2010 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital deafness associated with cardiac conduction abnormalities (Jervell and Lange-Nielsen syndrome) is associated with dysfunctional KCNQ1/KCNE1 channel complex.
|
15891643 |
2005 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
|
24125535 |
2014 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.
|
29677589 |
2018 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Two genes, KVLQT1 and minK, have been identified for Jervell and Lange-Nielsen syndrome.
|
9791861 |
1998 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.
|
10077519 |
1999 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, this is the first report of a large deletion in KCNQ1 identified in JLNS patients.
|
25187895 |
2014 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this report we provide evidence that not only homozygous but also compound heterozygous mutations in KvLQT1 may cause JLNS in nonconsanguineous families.
|
12051962 |
2002 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in KVLQT1 cause Jervell and Lange-Nielsen syndrome, which is characterized by more severe arrhythmias and congenital neural deafness.
|
10868746 |
2000 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The JLNS:RWS and JLNS:LQT1 adjusted hazard ratios (HR) for cardiac events were highest among patients with a baseline QTc > or = 550 msec (HR = 15.83 [P < 0.001] and 13.80 [P < 0.001], respectively).
|
16911578 |
2006 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We carried out a mutant screening of the KCNQ1 and KCNE1 genes in a clinical diagnosed German family with JLNS.
|
16987820 |
2006 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
KCNQ1 is associated with two different entities of LQTS, the autosomal-dominant Romano-Ward syndrome (RWS), and the autosomal-recessive Jervell and Lange-Nielsen syndrome (JLNS) characterized by bilateral deafness in addition to cardiac arrhythmias.
|
15950200 |
2005 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
|
27917693 |
2017 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive variants in these genes are associated with Jervell and Lange-Nielson syndrome (JLNS1 and JLNS2), a cardio-auditory syndrome characterized by congenital profound sensorineural deafness and a prolonged QT interval that can cause ventricular arrhythmias and sudden cardiac death.
|
30461122 |
2019 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome.
|
27868350 |
2017 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of minK, a protein subunit that interacts with KvLQT1, results in a marked reduction of I(Ks) giving rise to the Jervell and Lange-Nielsen syndrome and the reduced KCNH2 gene reduces MERG and I(Kr).
|
19148726 |
2009 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We used complementary approaches, reprogramming patient cells and genetic engineering, to generate human induced pluripotent stem cell (hiPSC) models of JLNS, covering splice site (c.478-2A>T) and missense (c.1781G>A) mutations, the two major classes of JLNS-causing defects in KCNQ1.
|
25453094 |
2014 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Findings have shown that JLNS occurs due to homozygous and compound heterozygous pathogenic variants in KCNQ1 or KCNE1.
|
23400408 |
2013 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two families with the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), and one family with the autosomal dominant Romano-Ward syndrome (RWS) were evaluated for mutations in KCNQ1.
|
10737999 |
2000 |