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https://ahro.austin.org.au/austinjspui/handle/1/16557
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DC Field | Value | Language |
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dc.contributor.author | Huq, Aamira J | - |
dc.contributor.author | Pertile, MD | - |
dc.contributor.author | Davis, AM | - |
dc.contributor.author | Landon, H | - |
dc.contributor.author | James, PA | - |
dc.contributor.author | Kline, CF | - |
dc.contributor.author | Vohra, J | - |
dc.contributor.author | Mohler, PJ | - |
dc.contributor.author | Delatycki, Martin B | - |
dc.date | 2016-11-16 | - |
dc.date.accessioned | 2017-01-31T01:11:54Z | - |
dc.date.available | 2017-01-31T01:11:54Z | - |
dc.date.issued | 2017-06 | - |
dc.identifier.citation | Heart, Lung and Circulation 2017; 26(6): 612-618 | en_US |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/16557 | - |
dc.description.abstract | BACKGROUND: Cardiac rhythm abnormalities are a leading cause of morbidity and mortality in developed countries. Loss-of-function variants in the ANK2 gene can cause a variety of cardiac rhythm abnormalities including sinus node dysfunction, atrial fibrillation and ventricular arrhythmias (called the "ankyrin-B syndrome"). ANK2 encodes ankyrin-B, a molecule critical for the membrane targeting of key cardiac ion channels, transporters, and signalling proteins. METHODS AND RESULTS: Here, we describe a family with a reciprocal chromosomal translocation between chromosomes 4q25 and 9q26 that transects the ANK2 gene on chromosome 4 resulting in loss-of-function of ankyrin-B. Select family members with ankyrin-B haploinsufficiency due to the translocation displayed clinical features of ankyrin-B syndrome. Furthermore, evaluation of primary lymphoblasts from a carrier of the translocation showed altered levels of ankyrin-B as well as a reduced expression of downstream ankyrin-binding partners. CONCLUSIONS: 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. | en_US |
dc.subject | ANK2 | en_US |
dc.subject | Ankyrin-B | en_US |
dc.subject | Ankyrin-B syndrome | en_US |
dc.subject | Cardiac arrhythmia | en_US |
dc.subject | Chromosome 4 translocation | en_US |
dc.subject | Long QT syndrome type 4 | en_US |
dc.title | A novel mechanism for human cardiac Ankyrin-B syndrome due to reciprocal chromosomal translocation | en_US |
dc.type | Journal Article | en_US |
dc.identifier.journaltitle | Heart, Lung and Circulation | en_US |
dc.identifier.affiliation | Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia | en_US |
dc.identifier.affiliation | Victorian Clinical Genetics Services, Melbourne, Victoria, Australia | en_US |
dc.identifier.affiliation | Department of Cardiology, Royal Children's Hospital, Melbourne, Victoria, Australia | en_US |
dc.identifier.affiliation | Department of Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia | en_US |
dc.identifier.affiliation | Department of Cardiology, Royal Melbourne Hospital, Melbourne, Victoria, Australia | en_US |
dc.identifier.affiliation | Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia | en_US |
dc.identifier.affiliation | Dorothy M. Davis Heart and Lung Research Institute; Departments of Physiology & Cell Biology and Internal Medicine; Ohio State University Wexner Medical Center, Columbus, OH, USA | en_US |
dc.identifier.affiliation | Bruce Lefroy Centre, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia | en_US |
dc.identifier.affiliation | Murdoch Childrens Research Institute, Melbourne, Victoria, Australia | en_US |
dc.identifier.affiliation | Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia | en_US |
dc.identifier.pubmeduri | https://pubmed.ncbi.nlm.nih.gov/27916589 | en_US |
dc.identifier.doi | 10.1016/j.hlc.2016.09.013 | en_US |
dc.type.content | Text | en_US |
dc.type.austin | Journal Article | en_US |
local.name.researcher | Delatycki, Martin B | |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.openairetype | Journal Article | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
item.fulltext | No Fulltext | - |
crisitem.author.dept | Clinical Genetics | - |
Appears in Collections: | Journal articles |
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