Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene
The result's identifiers
Result code in 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>
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene
Original language description
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
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FA - Cardiovascular diseases including cardio-surgery
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Circulation: cardiovascular genetics
ISSN
1942-325X
e-ISSN
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Volume of the periodical
2013
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
543-551
UT code for WoS article
000328629600005
EID of the result in the Scopus database
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