Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F14%3A00077661" target="_blank" >RIV/00216224:14110/14:00077661 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00159816:_____/14:00061399

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD

Popis výsledku v původním jazyce

Arrhythmogenic right ventricular dysplasia (ARVD) is a serious genetic disorder, usually with autosomal dominant inheritance, which can lead to sudden cardiac death in young individuals and athletes. The genes known to be associated with ARVD are five genes for desmosome proteins plus another three for non-desmosomal proteins. Here we present a patient with serious symptoms of ARVD (including ventricular tachycardia and sudden cardiac arrest), who carries three potentially pathological mutations in three diffe rent genes. Two missense mutations in ANKRD1 and TMEM43 gene respectively and one mutation, in PKP2, which causes aberrant splicing were detected. We hypothesized that the combination of these three pathological mutations could be the reason forthe lethal course of the disease. Moreover, we assume that mutations in ANKRD1 gene, which were previously shown to be responsible for dilated cardiomyopathy and hypertrophic cardiomyopathy, could be associated also with ARVD.

Název v anglickém jazyce

Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD

Popis výsledku anglicky

Arrhythmogenic right ventricular dysplasia (ARVD) is a serious genetic disorder, usually with autosomal dominant inheritance, which can lead to sudden cardiac death in young individuals and athletes. The genes known to be associated with ARVD are five genes for desmosome proteins plus another three for non-desmosomal proteins. Here we present a patient with serious symptoms of ARVD (including ventricular tachycardia and sudden cardiac arrest), who carries three potentially pathological mutations in three diffe rent genes. Two missense mutations in ANKRD1 and TMEM43 gene respectively and one mutation, in PKP2, which causes aberrant splicing were detected. We hypothesized that the combination of these three pathological mutations could be the reason forthe lethal course of the disease. Moreover, we assume that mutations in ANKRD1 gene, which were previously shown to be responsible for dilated cardiomyopathy and hypertrophic cardiomyopathy, could be associated also with ARVD.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FA - Kardiovaskulární nemoci včetně kardiochirurgie

OECD FORD obor

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Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Experimental and Clinical Cardiology

ISSN

1205-6626

e-ISSN

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Svazek periodika

20

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

CA - Kanada

Počet stran výsledku

4

Strana od-do

2221-2224

Kód UT WoS článku

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EID výsledku v databázi Scopus

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