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Functional testing for variant prioritization in a family with long QT syndrome

Mol Genet Genomics. 2021-04; 
Maliheh Najari Beidokhti, Alexander C Bertalovitz, Weizhen Ji, Jorge McCormack, Lauren Jeffries, Emily Sempou, Mustafa K Khokha, Thomas V McDonald, Saquib A Lakhani
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GenParts™ DNA Fragments … KCNQ1 # U4656BB290-15/Y25797 was constructed by GenScript (Piscataway, NJ) using primers (proprietary) designed to yield 2 overlapping target gene fragments which were gel … Get A Quote

摘要

Next-generation sequencing platforms are being increasingly applied in clinical genetic settings for evaluation of families with suspected heritable disease. These platforms potentially improve the diagnostic yield beyond that of disease-specific targeted gene panels, but also increase the number of rare or novel genetic variants that may confound precise diagnostics. Here, we describe a functional testing approach used to interpret the results of whole exome sequencing (WES) in a family presenting with syncope and sudden death. One individual had a prolonged QT interval on electrocardiogram (ECG) and carried a diagnosis of long QT syndrome (LQTS), but a second individual did not meet criteria for LQTS. Filteri... More

关键词

KCNH2, KCNQ1, Long QT syndrome, Potassium channel