Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F27283933%3A_____%2F25%3AN0000017" target="_blank" >RIV/27283933:_____/25:N0000017 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/25:10504542 RIV/00023001:_____/25:00086166 RIV/00216208:11130/25:10504542
Result on the web
<a href="https://www.dovepress.com/article/download/107962" target="_blank" >https://www.dovepress.com/article/download/107962</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.2147/TACG.S550190" target="_blank" >10.2147/TACG.S550190</a>
Alternative languages
Result language
angličtina
Original language name
Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy
Original language description
The TTN gene (MIM:188840) encodes titin, the largest human protein with exclusive expression in the cardiac and skeletal muscles. Rare variants disrupting the TTN gene are frequent causes of dilated cardiomyopathy and several forms of skeletal myopathy. We report a unique occurrence of two novel, distinct but overlapping intragenic TTN deletions in multiple relatives from a single Czech family with the clinical manifestation of dilated cardiomyopathy (DCM). After clinical exome sequencing using the custom virtual gene panel, two distinct deletions affecting the TTN gene (NM_001267550.2) were detected. The first deletion (3.599 kb in length) encompasses five exons with the breakpoints in exons 326 and 330. The longer one (4.859 kb in length) disrupts exon 326 only. Both deletions segregate with the cardiomyopathy phenotype, and none of the tested individuals carry both. The familial segregation of two distinct intragenic TTN deletions extends the broad spectrum of rare variants in the pathogenesis of DCM. The presence of severely affected carriers of the reported DNA variants and obligatory healthy non-carriers raises the debate on their ancestral origin. Our data demonstrate the clinical benefits of the family cascade screening and molecular genetic analysis in familial DCM, enabling early and effective multidisciplinary medical care.
Czech name
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Czech description
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Classification
Type
J<sub>ost</sub> - Miscellaneous article in a specialist periodical
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
The Application of Clinical Genetics
ISSN
1178-704X
e-ISSN
—
Volume of the periodical
18
Issue of the periodical within the volume
1
Country of publishing house
NZ - NEW ZEALAND
Number of pages
7
Pages from-to
211-217
UT code for WoS article
001596564000001
EID of the result in the Scopus database
2-s2.0-105018923711