Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F13%3A00058756" target="_blank" >RIV/00023001:_____/13:00058756 - isvavai.cz</a>

Výsledek na webu

<a href="http://circgenetics.ahajournals.org/content/6/6/543.full.pdf+html" target="_blank" >http://circgenetics.ahajournals.org/content/6/6/543.full.pdf+html</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1161/CIRCGENETICS.113.000245" target="_blank" >10.1161/CIRCGENETICS.113.000245</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene

Popis výsledku v původním jazyce

Background: Hypertrophic cardiomyopathy (HCM) with restrictive hemodynamic pattern has been associated with mutations of myofilament genes, severe exercise intolerance and poor prognosis. However, molecular etiology of this disease remains unexplained ina large proportion of cases. Methods and Results: We performed whole exome sequencing as an initial genetic test in a large Czech family with three males affected by non-obstructive HCM with restrictive phenotype in end-stage disease. A novel frameshiftmutation of four-and-a-half LIM domain 1 gene (FHL1) (c.599_600insT; p.F200fs32X) was detected in these individuals. The mutation does not affect transcription, splicing and stability of FHL1 mRNA and results into production of truncated FHL1 protein, which is contrary to heart tissue homogenate not detectable in frozen tissue sections of myocardial biopsy of affected males. The identified mutation co-segregated also with abnormal electrocardiogram and with one case of apical HCM in het

Název v anglickém jazyce

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene

Popis výsledku anglicky

Background: Hypertrophic cardiomyopathy (HCM) with restrictive hemodynamic pattern has been associated with mutations of myofilament genes, severe exercise intolerance and poor prognosis. However, molecular etiology of this disease remains unexplained ina large proportion of cases. Methods and Results: We performed whole exome sequencing as an initial genetic test in a large Czech family with three males affected by non-obstructive HCM with restrictive phenotype in end-stage disease. A novel frameshiftmutation of four-and-a-half LIM domain 1 gene (FHL1) (c.599_600insT; p.F200fs32X) was detected in these individuals. The mutation does not affect transcription, splicing and stability of FHL1 mRNA and results into production of truncated FHL1 protein, which is contrary to heart tissue homogenate not detectable in frozen tissue sections of myocardial biopsy of affected males. The identified mutation co-segregated also with abnormal electrocardiogram and with one case of apical HCM in het

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

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

Circulation: cardiovascular genetics

ISSN

1942-325X

e-ISSN

—

Svazek periodika

2013

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

543-551

Kód UT WoS článku

000328629600005

EID výsledku v databázi Scopus

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