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The human ether-a-go-go related gene (HERG) represents the main target of these studies due to its role in coding KCNH2 ion channel--the molecular substrate of QT prolongation [8].
Although AHR, ESR1, and ESR2 are promiscuous targets in the bipartite network, the measured AHR downstream targets (CYP1A1) and Per-Arnt-Sim (PAS) domain-containing proteins (HIF1A and KCNH2) show limited connectivity with one another, consistent with the recent molecular genetic screening studies (Geller et al.
iPSCs were obtained from a fifteen-year-old female that showed symptoms of LQT syndrome and carried the missense c.1681G>A (p.A561T) mutation in KCNH2 and her mother who was an asymptomatic carrier of the mutation.
Gene mutations in KCNQ1, KCNH2 and SCN5A account for 90% to 95% cases of long QT syndrome.
While molecular autopsies involving the 4 major cardiac channelopathy genes (KCNQ1 [LQT1], KCNH2 [LQT2], SCN5A [LQT3, BrS1], and RYR2 [CPVT1]) have implicated LQTS, CPVT, and BrS as the underlying pathogenetic basis for an estimated 25% to 30% of SUD cases, (9-11) to date there are at least 28 channelopathy-susceptibility genes.
Armstrong et al., "Genetic variations of HCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients" Journal of Molecular Medicine, vol.
In the case at hand, the child had mutation in the SCN5A gene, which encodes a sodium channel, and a common polymorphism in the KCNH2 gene, which encodes a potassium channel.
A meta-analysis of clinical data showed an association between SNPs in KCNH2 (a human Ether-a-go-go-family potassium channel) and schizophrenia [126].
The comprehensive triple-testing for the KCNQ 1, KCNH2, and SCN5A genes routinely recommended for long QT syndrome has a diagnostic yield of 80% and a signal-to-noise ratio of 19:1.
Long QT and Jervelle Lange-Nielsen syndromes: Genetic defects and channel abnormalities Syndrome Gene Function Autosomal dominant LQT1 KCNQ1 [I.sub.ks] Decreased LQT2 KCNH2 [I.sub.Kr] Decreased LQT3 SCN5A [I.sub.Na] Decreased LQT4 ANK2 [I.sub.Na, K] Decreased LQT5 KCNE1 [I.sub.ks] Decreased LQT6 KCNE2 [] Decreased LQT7 KCNJ2 [I.sub.k1] Decreased LQT8 CACNA1C [I.sub.Ca,L] Increased LQT9 CAV3 [I.sub.Na] Increased LQT10 SCN4B [I.sub.Na] Increased Autosomal recessive JLN1 KCNQ1 [I.sub.ks] Decreased JLN2 KCNE1 [I.sub.ks] Decreased Cardiac sodium ([I.sub.Na]), Potassium ([I.sub.ks], [I.sub.Kr], [I.sub.k1]) and Calcium currents
The majority of mutations have been identified in LQT1 (40%-55%), LQT2 (35%-45%), and LQT3 (2%-8%), which represent the genes KCNQ1, KCNH2, and SCN5A, respectively.
Within this hypothesis there may be a role for the HERG gene (also known as the KCNH2 gene) which encodes the rapid rectifier current ([I.sub.Kr]) potassium channel protein [4].
Of the 16 LQTS SIDS cases, 8 featured a mutation in SCN5A, 6 in KCNH2, and 2 in KCNQ1.
One such gene is KCNH2. Some people in whom Chugh found the KCNH2 gene defect lacked a family history in both SCD and CAD.