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Report for Mutation A561P

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 CIQTP Prolongation : Role and Mechanism in Sudden Cardiac Death

Despite major progress in molecular and phenotypic characterization of primary electrical disorders, many (aborted) sudden cardiac deaths (SCD) occur in young victims without identifiable abnormalities. Investigator recently identified, in 4 families presenting unexplained SCD, a new arrhythmia entity (catecholamine-induced QT prolongation; CIQTP) characterized by normal QT duration at rest but major QT lengthening during mental stress test (MST). Investigators aim to determine the prevalence of this new phenotype in unexplained SCD and identify its underlying pathophysiological mechanism. More specifically, investigators aim to: - determine the prevalence of CIQTP in unexplained SCD and identify new affected families; - identify the role of mental stress in QT prolongation; - identify the genetics basis underlying this life threatening disease; - perform transcriptomic and electrophysiological profiling of induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) from CIQTP patients to identify putative biomarkers and pathophysiological mechanisms. MST will be performed, additionally to the conventional screening, in families affected by unexplained SCD or long QT syndrome (LQTS) referred to university hospitals of Nantes, Rennes, Tours and Brest. Relevance of the MST on the different type of LQTS will be evaluated and compared to conventional provocative tests (epinephrine, exercise). Whole-genome sequencing will first be performed in 3 distantly affected relatives within each of the 4 largest families identified. As previously performed in Nantes, analysis of the shared rare variants will allow identifying gene(s) associated with the disease. Transcriptomic (high-throughput 3' Digital Gene Expression mRNA sequencing) and electrophysiological (96-well automated optical recordings of action potentials and patch-clamp recordings of ionic currents, using specific ion channel activators and inhibitors) profiling will be performed on iPSC-CMs from 2 affected and one unaffected first-degree relatives of these 4 large families.

NCT03387072 Sudden Cardiac Death Other: Non interventional study
MeSH: Death, Sudden, Cardiac Death
HPO: Sudden cardiac death

Regarding the iPS cells from the LQT2 patient, the investigators showed that hERG A561P mutation leads to a trafficking defect that results in reduced IKr current, and consequently e to action potential prolongation and cellular arrhythmias(early afterdepolarizations) . --- A561P ---

Primary Outcomes

Measure: Number of families diagnosed with a CIQTP syndrome compared to the number of families who underwent a familial screening after a sudden cardiac death

Time: 12 months

Secondary Outcomes

Measure: Identification of genetics variants involved in the occurrence of CIQTP syndrome

Time: 24 months

Measure: gene and ionic current expression modifications between healthy and affected relatives

Time: 24 months


HPO Nodes


Sudden cardiac death
Genes 120
SCN4B TRDN LDLRAP1 GTF2I ANK2 PTPN22 AKT1 APOB BAZ1B CALM1 TNNI3 PRKAG2 DSG2 ABCG8 TRNH CACNA2D1 TECRL KCNQ1 KCNE2 KCNQ1 EYA4 LMNA ND4 MYH7 RFC2 ANK2 TRNL1 WIPF1 TMEM43 HLA-B KCNQ1 CPT1A NOS1AP EMD LMNA TRNQ KCNJ2 DTNA CALM2 SCN5A CALM3 GTF2IRD1 MYL3 KCNH2 CRLF1 TRNS2 ACAD9 SYNE1 TRDN KCNQ1 ABCA12 KCNE1 DSC2 ENPP1 GPD1L FGFR3 ACADVL EMD SCN5A TRNS1 KCNE2 LIMK1 CACNA1C KCNH2 CASQ2 SCN5A PCSK9 KCNQ1 DPP6 KCNH2 WAS KCNE1 LDLR COX1 TMEM43 CALM2 IKZF1 RBM20 LMNA CLIP2 TRNF CLCF1 KCNE1 KCNJ5 DSP LDB3 ND1 SCN10A ELN FHL1 KCNQ1 JUP TRNW COX3 GNAI2 RYR2 LRP6 TBL2 COX2 ALG10B TGFB3 MYL2 SNTA1 ABCC6 DES ND6 LMNA SCN4B AKAP9 PKP2 CSRP3 CALM1 PTEN ACADL SYNE2 JUP ND5 CAV3 DNAJC19 ABCG5