Key result
Screening identified 7 novel nonsynonymous ANK2 variants, 4 of which displayed abnormal activity in cardiomyocytes, contributing to the range of severity of cardiac dysfunction.
Population
Populations of different ethnicities and primary cardiomyocytes
Comparison
Screening for ANK2 variants and characterization… vs Wild-type ANK2
Design
Preclinical
Authors
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May inform ANK2 variant interpretation in ankyrin-B syndrome; leaves open clinical translation from animal cardiomyocyte models.
Observational
Different ANK2 variants confer varying degrees of ankyrin-B loss of function in cardiomyocytes, which likely explains the wide clinical spectrum of ankyrin-B syndrome.
Mohler et al. (2007) conducted an observational in Congenital arrhythmia, drug-induced long-QT syndrome. ANK2 variants was evaluated on Identification and cellular characterization of ANK2 variants. Screening identified 7 novel nonsynonymous ANK2 variants, 4 of which displayed abnormal activity in cardiomyocytes, contributing to the range of severity of cardiac dysfunction.
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