Article
Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene.
Circulation. Genomic and precision medicine - 1 Apr 2023
Zhou Wei, Ye Dan, Tester David J, Bains Sahej, Giudicessi John R, Haglund-Turnquist Carla M, Orland Kate M, January Craig T, Eckhardt Lee L, Maginot Kathleen R, Ackerman Michael J
Abstract excerpt
BACKGROUND: Long-QT syndrome (LQTS) is characterized by QT prolongation and increased risk for syncope, seizures, and sudden cardiac death. The majority of LQTS stems from pathogenic mutations in KCNQ1, KCNH2, or SCN5A. However, ≈10% of patients with LQTS remain genetically elusive. We utilized genome sequencing to identify a novel LQTS genetic substrate in a multigenerational genotype-negative LQTS pedigree....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.