|
rs17215500
|
|
|
0.730 |
GeneticVariation |
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 |
|
rs17215500
|
|
|
0.730 |
GeneticVariation |
BEFREE |
An adult female with Jervell and Lange-Nielsen syndrome (JLNS; with KCNQ1 nonsense mutations p.Arg518X and p.Arg190AlafsX95 ) presented with multiple gastric carcinoid tumors and grossly elevated serum gastrin levels (943-1,570 pmol/L; normal 6-55 pmol/L) and absent acid secretion.
|
21118729 |
2011 |
|
rs17215500
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A third allele (R518X) was observed in the second JLNS family.
|
10737999 |
2000 |
|
rs199472815
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS).
|
29677589 |
2018 |
|
rs199472815
|
|
|
0.020 |
GeneticVariation |
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 |
|
rs199473662
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS).
|
29677589 |
2018 |
|
rs151344631
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Given the lack of prelingual deafness the homozygous V205M LQTS patients present with a phenotype more typical of RWS than JLNS.
|
23844633 |
2014 |
|
rs199472755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The T322M mutation is the first mutation identified for JLNS in the Chinese population.
|
18400097 |
2008 |
|
rs199472702
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function.
|
16914890 |
2006 |