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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 .
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.
The most common mutations are KCNQ1, KCNH2, and SCN5A.
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 .
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 [I.sub.kr] 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 .
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.
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