Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young | Zendy

Jason H. Anderson | Zendy; David J. Tester | Zendy; Melissa L. Will | Zendy; Michael J. Ackerman | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young

Author(s) -

Jason H. Anderson,

David J. Tester,

Melissa L. Will,

Michael J. Ackerman

Publication year - 2016

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.115.001370

Subject(s) - exome sequencing , catecholaminergic polymorphic ventricular tachycardia , medicine , autopsy , sudden death , mutation , genetics , exome , genetic testing , gene , biology , ryanodine receptor 2 , ryanodine receptor , calcium

Targeted postmortem genetic testing of the 4 major channelopathy-susceptibility genes (KCNQ1, KCNH2, SCN5A, and RYR2) have yielded putative pathogenic mutations in ≤30% of autopsy-negative sudden unexplained death in the young (SUDY) cases with highest yields derived from the subset of exertion-related SUDY. Here, we evaluate the role of whole-exome sequencing in exertion-related SUDY cases.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research