Please use this identifier to cite or link to this item:
10.12955/cbup.v4.823
Title: | A CASE REPORT : PKP2 GENE C.1592T>G VARIATION IN HOMOZYGOUS FORM IDENTIFIED IN ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA PATIENT |
Authors: | Bidina, Luize Kupics, Kaspars Sokolova, Emma Pavlovics, Mihails Dobele, Zane Piekuse, Linda Kalejs, Oskars Rīga Stradiņš University Scientific Laboratory of Molecular Genetics |
Keywords: | ARVD;PKP2;cardiovascular genetics;1.6 Biological sciences;3.2 Clinical medicine;3.1. Articles or chapters in proceedings/scientific books indexed in Web of Science and/or Scopus database |
Issue Date: | 2016 |
Publisher: | Central Bohemia University |
Citation: | Bidina , L , Kupics , K , Sokolova , E , Pavlovics , M , Dobele , Z , Piekuse , L & Kalejs , O 2016 , A CASE REPORT : PKP2 GENE C.1592T >G VARIATION IN HOMOZYGOUS FORM IDENTIFIED IN ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA PATIENT . in CBU INTERNATIONAL CONFERENCE ON INNOVATIONS IN SCIENCE AND EDUCATION : Proceedings . vol. 4 , CBU INTERNATIONAL CONFERENCE PROCEEDINGS 2016: INNOVATIONS IN SCIENCE AND EDUCATION , Central Bohemia University , Prague , pp. 631-633 , CBU International Conference on Innovations in Science and Educat , Prague , Czech Republic , 23/03/16 . https://doi.org/10.12955/cbup.v4.823 conference |
Series/Report no.: | CBU INTERNATIONAL CONFERENCE PROCEEDINGS 2016: INNOVATIONS IN SCIENCE AND EDUCATION |
Abstract: | Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy. Early recognition and follow up of this disease can reduce sudden cardiac death burden. Arrhythmogenic right ventricular dysplasia is usually inherited as an autosomal dominant trait. We report a case of a young woman aged 26 years with a past history of chest pain and palpitations. During examination, abnormalities were found in results of an electrocardiogram and echocardiography. Genetic testing of the plakophilin 2 (PKP2) gene was done by direct sequencing and genetic variation "NG_009000.1: c.1592T>G" was found in a homozygote form. In family member screening in patients, parents' variation is found in a heterozygote form, where both are healthy. In all reports, "c.1592T>G" is reported only in a heterozygous state, with no known pathogenicity. We consider that this is possibly a pathogenic mutation, inherited as an autosomal recessive trait. |
DOI: | 10.12955/cbup.v4.823 |
ISBN: | 978-80-88042-04-4 |
ISSN: | 1805-997X |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
Files in This Item:
File | Size | Format | |
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A_CASE_REPORT_PKP2GENE.pdf | 218.22 kB | Adobe PDF | View/Open |
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