IndraLab

Statements

KCNQ1 activates JLNS. 8 / 8
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"Several missense variants are reported to cause RWS by a dominant negative mechanism, and some KCNQ1 variants can cause both Jervell and Lange-Nielsen Syndrome (JLNS; in an autosomal recessive manner) and LQTS1 (in an autosomal dominant manner), while other KCNQ1 variants cause only JLNS."
28595573
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"To the best of our knowledge, this is the first report showing that a nonsense variant in exon 1a of KCNQ1, which is the kidney-isoform specific exon, causes JLNS."
28595573
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"Here, we report a novel nonsense KCNQ1 variant causing not only JLNS, but also significant QTc prolongation identical to RWS in an autosomal dominant manner."
28595573
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"In summary, some KCNQ1 variants can cause both JLNS (in an autosomal recessive manner) and RWS (in an autosomal dominant manner), while several KCNQ1 variants cause only JLNS in an autosomal recessive manner."
28595573
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"Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause JLNS."
14510661
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"JLNS is also caused by mutations in KCNQ1, although it is a recessive disorder whereas LQT1 is an autosomal dominant or sporadic disease."
28883014
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"JLNS is a ventricular repolarization abnormality and is caused by mutations in the KCNQ1 or KCNE1 gene."
26022593
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"In this report we provide evidence that not only homozygous but also compound heterozygous mutations in KvLQT1 may cause JLNS in nonconsanguineous families."
12051962