Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with
ARVD

J 2014

Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD

SKUTKOVÁ, Linda; Diana GROCHOVÁ; Ilga GROCHOVÁ a Hana HRSTKOVÁ

Základní údaje

Originální název

Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD

Autoři

SKUTKOVÁ, Linda; Diana GROCHOVÁ; Ilga GROCHOVÁ a Hana HRSTKOVÁ

Vydání

Experimental and Clinical Cardiology, Oakville, Pulsus Group Inc. 2014, 1205-6626

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30201 Cardiac and Cardiovascular systems

Stát vydavatele

Kanada

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 0.758 v roce 2013

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/14:00077661

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

ANKRD1; Arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Next generation sequencing; PKP2; TMEM43

Štítky

EL OK

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 5. 12. 2014 12:50, Soňa Böhmová

Anotace

V originále

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 for the 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.

Citovat

SKUTKOVÁ, Linda; Diana GROCHOVÁ; Ilga GROCHOVÁ a Hana HRSTKOVÁ. Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD. Experimental and Clinical Cardiology. Oakville: Pulsus Group Inc., 2014, roč. 20, č. 1, s. 2221-2224. ISSN 1205-6626.

@article{1211811,
   author = {Skutková, Linda and Grochová, Diana and Grochová, Ilga and Hrstková, Hana},
   article_location = {Oakville},
   article_number = {1},
   keywords = {ANKRD1; Arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Next generation sequencing; PKP2; TMEM43},
   language = {eng},
   issn = {1205-6626},
   journal = {Experimental and Clinical Cardiology},
   title = {Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD},
   volume = {20},
   year = {2014}
}

TY  - JOUR
ID  - 1211811
AU  - Skutková, Linda - Grochová, Diana - Grochová, Ilga - Hrstková, Hana
PY  - 2014
TI  - Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD
JF  - Experimental and Clinical Cardiology
VL  - 20
IS  - 1
SP  - 2221-2224
EP  - 2221-2224
PB  - Pulsus Group Inc.
SN  - 12056626
KW  - ANKRD1
KW  - Arrhythmogenic right ventricular dysplasia
KW  - Cardiomyopathy
KW  - Next generation sequencing
KW  - PKP2
KW  - TMEM43
N2  - 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 for the 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.
ER  -

SKUTKOVÁ, Linda; Diana GROCHOVÁ; Ilga GROCHOVÁ a Hana HRSTKOVÁ. Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD. \textit{Experimental and Clinical Cardiology}. Oakville: Pulsus Group Inc., 2014, roč.~20, č.~1, s.~2221-2224. ISSN~1205-6626.

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