Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/16557
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dc.contributor.authorHuq, Aamira J-
dc.contributor.authorPertile, MD-
dc.contributor.authorDavis, AM-
dc.contributor.authorLandon, H-
dc.contributor.authorJames, PA-
dc.contributor.authorKline, CF-
dc.contributor.authorVohra, J-
dc.contributor.authorMohler, PJ-
dc.contributor.authorDelatycki, Martin B-
dc.date2016-11-16-
dc.date.accessioned2017-01-31T01:11:54Z-
dc.date.available2017-01-31T01:11:54Z-
dc.date.issued2017-06-
dc.identifier.citationHeart, Lung and Circulation 2017; 26(6): 612-618en_US
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/16557-
dc.description.abstractBACKGROUND: 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.subjectANK2en_US
dc.subjectAnkyrin-Ben_US
dc.subjectAnkyrin-B syndromeen_US
dc.subjectCardiac arrhythmiaen_US
dc.subjectChromosome 4 translocationen_US
dc.subjectLong QT syndrome type 4en_US
dc.titleA novel mechanism for human cardiac Ankyrin-B syndrome due to reciprocal chromosomal translocationen_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleHeart, Lung and Circulationen_US
dc.identifier.affiliationDepartment of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australiaen_US
dc.identifier.affiliationVictorian Clinical Genetics Services, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Cardiology, Royal Children's Hospital, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Cardiology, Royal Melbourne Hospital, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDorothy M. Davis Heart and Lung Research Institute; Departments of Physiology & Cell Biology and Internal Medicine; Ohio State University Wexner Medical Center, Columbus, OH, USAen_US
dc.identifier.affiliationBruce Lefroy Centre, Murdoch Childrens Research Institute, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationMurdoch Childrens Research Institute, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Pathology, University of Melbourne, Melbourne, Victoria, Australiaen_US
dc.identifier.pubmedurihttps://pubmed.ncbi.nlm.nih.gov/27916589en_US
dc.identifier.doi10.1016/j.hlc.2016.09.013en_US
dc.type.contentTexten_US
dc.type.austinJournal Articleen_US
local.name.researcherDelatycki, Martin B
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
crisitem.author.deptClinical Genetics-
Appears in Collections:Journal articles
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