V1763M LQT4 ANK2 Ankyrin-2 LQT5 KCNE1 Potassium voltage-gated channel subfamily E member 1 LQT6 KCNE2
Potassium voltage-gated channel subfamily E member 2 LQT7 KCNJ2 Inward rectifier potassium channel 2 LQT8 CACNA1 Voltage-dependent p.
05), although the authors noted that 2 of the loci examined [MRAS (muscle RAS oncogene homolog) and KCNE2 (potassium voltage-gated channel, Isk-related family, member 2)] had summary effect sizes in the direction opposite to that described in previous reports.
4] Human genes: PHACTR1, phosphatase and actin regulator 1; HNF1A, HNF1 homeobox A; PCSK9, proprotein convertase subtilisin/kexin type 9; SORT1, sortilin 1; SLC22A3, solute carrier family 22 (extraneuronal monoamine transporter), member 3; LPAL2, lipoprotein, Lp(a)-like 2, pseudogene; LPA, lipoprotein, Lp(a); MRAS, muscle RAS oncogene homolog; KCNE2, potassium voltage-gated channel, Isk-related family, member 2.
6) Furthermore, LQT4 to LQT8 are rarer forms, the involved genes being ANK2, KCNE1, KCNE2
, KCNJ2 and CACNA1C respectively.
33 SMAD3 rs17228212 CAD 16q23 NA rs8055236 early-onset 19p13 LDLR rs1122608 myocardial infarction CAD 19q12 NA rs7250581 early-onset 21q22 SLC5A3-MRPS6- rs9982601 myocardial KCNE2
infarction CAD 22q12 NA rs688034 Phenotype Risk Allele P-value Odds ratio Frequency CAD 0.
Writing about their findings in a paper, the researchers say that their work suggests that mutations of either of two gene products-proteins called KCNE2 and KCNQ1, which are already known to be involved in human cardiac arrhythmias-can also cause thyroid dysfunction.
Recognized more than a decade ago, KCNQ1 and KCNE2 are known to form potassium channels in cardiac muscle that help end each heartbeat in a timely fashion.
Inherited mutations in KCNQ1 and KCNE2 cause ventricular and atrial cardiac arrhythmias, previously presumed to be due entirely to the role of these proteins in cardiac muscle.
The FAMILION Postmortem Channelopathies Test includes targeted sequencing of 6 genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2
, RYR2) and is performed in a CLIA-certified commercial laboratory that meets all applicable state and federal guidelines.
The remainder may have mutations in KCNE1 or KCNE2 encoding minx (8) and MiRP1 (4), respectively, or in the SCN5A gene encoding the SCN5A [Na.
The recent discovery of KCNE2 mutations among patients suffering from drug-induced, inherited, or sporadic arrhythmia (4) further corroborates the involvement of the HERG/MiRP1 ion channel in the susceptibility to arrhythmia.
34] Chromosomal localization studies mapped this KCNE2
gene to chromosome 21q22.