Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8559" target="_blank" >RIV/00064203:_____/12:8559 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/12:8559 RIV/00064173:_____/12:43904160 RIV/00216208:11120/12:43904160

Výsledek na webu

<a href="http://www.ncbi.nlm.nih.gov/pubmed/22455086" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/22455086</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy

Popis výsledku v původním jazyce

Introduction Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease with autosomal dominant inheritance. It is caused by mutations in the genes coding for structural and/or regulatory proteins found in the sarcomere of cardiomyocytes. A group of genes, including the heavy chain of beta-myosin (MYH7), myosin binding protein C (MYBPC3), cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) are frequently affected by causal mutations. While exact mutation frequency data has been obtained for various populations, no screening has been reported for Central European populations. Patients and methods We performed a complete sequencing of MYH7, MYBPC3,TNNI3 and TNNT2 genes in 100 HCM patients. Results We discovered mutations in a total of 40 patients (40%), including 4 patients with double mutations. A total of 35 different mutation types were detected, of which 17 were novel. The contributions from individual genes were: 24 mutations in MYBPC3 (54.5%), 14 in MYH7 (31.8%), 4 in TNNI

Název v anglickém jazyce

Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy

Popis výsledku anglicky

Introduction Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease with autosomal dominant inheritance. It is caused by mutations in the genes coding for structural and/or regulatory proteins found in the sarcomere of cardiomyocytes. A group of genes, including the heavy chain of beta-myosin (MYH7), myosin binding protein C (MYBPC3), cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) are frequently affected by causal mutations. While exact mutation frequency data has been obtained for various populations, no screening has been reported for Central European populations. Patients and methods We performed a complete sequencing of MYH7, MYBPC3,TNNI3 and TNNT2 genes in 100 HCM patients. Results We discovered mutations in a total of 40 patients (40%), including 4 patients with double mutations. A total of 35 different mutation types were detected, of which 17 were novel. The contributions from individual genes were: 24 mutations in MYBPC3 (54.5%), 14 in MYH7 (31.8%), 4 in TNNI

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

<a href="/cs/project/NR9164" target="_blank" >NR9164: Klinické a funkční koreláty u hypertrofické kardiomyopatie v české populaci</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2012

Kód důvěrnosti údajů

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

Název periodika

Acta Cardiologica

ISSN

0001-5385

e-ISSN

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Svazek periodika

67

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

BE - Belgické království

Počet stran výsledku

7

Strana od-do

23-29

Kód UT WoS článku

000314086200004

EID výsledku v databázi Scopus

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