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Full-Text Articles in Medicine and Health Sciences
A Novel Missense Mutation In Tnni3k Causes Recessively Inherited Cardiac Conduction Disease In A Consanguineous Pakistani Family, Shafaq Ramzan, Stephanie Tennstedt Stephanie Tennstedt, Muhammad Tariq, Sheraz Khan, Hafiza Noor Ul Ayan, Aamir Ali, Matthias Munz, Holger Thiele, Asad Aslam Korejo, Shahid Mahmood Baig
A Novel Missense Mutation In Tnni3k Causes Recessively Inherited Cardiac Conduction Disease In A Consanguineous Pakistani Family, Shafaq Ramzan, Stephanie Tennstedt Stephanie Tennstedt, Muhammad Tariq, Sheraz Khan, Hafiza Noor Ul Ayan, Aamir Ali, Matthias Munz, Holger Thiele, Asad Aslam Korejo, Shahid Mahmood Baig
Department of Biological & Biomedical Sciences
Cardiac conduction disease (CCD), which causes altered electrical impulse propagation in the heart, is a life-threatening condition with high morbidity and mortality. It exhibits genetic and clinical heterogeneity with diverse pathomechanisms, but in most cases, it disrupts the synchronous activity of impulse-generating nodes and impulse-conduction underlying the normal heartbeat. In this study, we investigated a consanguineous Pakistani family comprised of four patients with CCD. We applied whole exome sequencing (WES) and co-segregation analysis, which identified a novel homozygous missense mutation (c.1531T>C;(p.Ser511Pro)) in the highly conserved kinase domain of the cardiac troponin I-interacting kinase (TNNI3K) encoding gene. The behaviors of …