Established Loss-of-Function Variants in ANK2-Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans

Circ Genom Precis Med. 2020 Apr;13(2):e002851. doi: 10.1161/CIRCGEN.119.002851. Epub 2020 Mar 12.

Authors

John R Giudicessi¹, Michael J Ackerman^{2

3

4}

Affiliations

¹ Department of Cardiovascular Medicine, Clinician-Investigator Training Program (J.R.G.).
² Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (M.J.A.).
³ Division of Heart Rhythm Services, Department of Cardiovascular Medicine (M.J.A.).
⁴ Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN. (M.J.A.).

PMID: 32164423
DOI: 10.1161/CIRCGEN.119.002851

No abstract available

Keywords: ankyrin; death, sudden; exome; human; mice; phenotype.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Aged, 80 and over
Ankyrins / genetics*
Arrhythmias, Cardiac / etiology*
Arrhythmias, Cardiac / pathology*
Female
Humans
Loss of Function Mutation*
Male
Pedigree
Phenotype
Prognosis
Retrospective Studies
Young Adult

Substances

ANK2 protein, human
Ankyrins