Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5602555 | Heart, Lung and Circulation | 2017 | 7 Pages |
Abstract
Thus, our data conclude that, similar to previously described ANK2 loss-of-function “point mutations”, large chromosomal translocations resulting in ANK2 haploinsufficiency are sufficient to cause the human cardiac ankyrin-B syndrome. The unexpected ascertainment of ANK2 dysfunction via the discovery of a chromosomal translocation in this family, the determination of the familial phenotype, as well as the complexities in formulating screening and treatment strategies are discussed.
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Authors
A.J. MBBS, FRACP, M.D. PhD, A.M. MD, H. BS, P.A. MBChB, FRACP, PhD, C.F. PhD, J. MD, FRACP, FRCP (UK), FACC, FCSANZ, P.J. PhD, M.B. FRACP, PhD,