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%2F00216208%3A11110%2F13%3A10191982" target="_blank" >RIV/00216208:11110/13:10191982 - isvavai.cz</a>
Alternative codes found
RIV/00064190:_____/13:#0000658
Result on the web
<a href="http://dx.doi.org/10.1161/CIRCGENETICS.113.000245" target="_blank" >http://dx.doi.org/10.1161/CIRCGENETICS.113.000245</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 with severe left ventricular diastolic dysfunction has been associated with marked exercise intolerance and poor prognosis. However, molecular pathogenesis of this phenotype remains unexplained in a large proportionof cases. Methods and Results We performed whole exome sequencing as an initial genetic test in a large Czech family with 3 males affected by nonobstructive hypertrophic cardiomyopathy with severe left ventricular diastolic dysfunction in end-stage disease. A novel frameshift mutation 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 in 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 cosegregated also with abnormal ECG and with 1 case of apical hyper
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
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NT13116" target="_blank" >NT13116: Identification of the genetic and molecular basis of rare genetic disorders using novel genomic methods.</a><br>
Continuities
S - Specificky vyzkum na vysokych skolach<br>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
1942-3268
e-ISSN
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Volume of the periodical
6
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
9
Pages from-to
543-551
UT code for WoS article
000328629600005
EID of the result in the Scopus database
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