Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.
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ABSTRACT:
SUBMITTER: Mohler PJ
PROVIDER: S-EPMC2013943 | biostudies-literature | 2007 Oct
REPOSITORIES: biostudies-literature
Publications
Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.
Mohler Peter J PJ Healy Jane A JA Xue Hui H Puca Annibale A AA Kline Crystal F CF Allingham R Rand RR Kranias Evangelia G EG Rockman Howard A HA Bennett Vann V
PloS one 20071017 10
Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants. The prevalence of certain ANK2 (encodes ankyrin-B) variants range from 2 percent of European individuals to 8 percent in individuals from West Africa. Ankyrin-B variants associated with severe human arrhythmia phenotypes (eg E1425G, V1516D, R1788W) were rare in the general population. Variants associated with less severe clinical and in vitro phenotypes were unexpectedly co ...[more]
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