Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F23%3A00078121" target="_blank" >RIV/65269705:_____/23:00078121 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/23:00131222
Result on the web
<a href="https://mrmjournal.org/mrm/article/view/909" target="_blank" >https://mrmjournal.org/mrm/article/view/909</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.4081/mrm.2023.909" target="_blank" >10.4081/mrm.2023.909</a>
Alternative languages
Result language
angličtina
Original language name
Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome
Original language description
Introduction: Telomeropathies are associated with a wide range of diseases and less common combinations of various pulmonary and extrapulmonary disorders.Case presentation: In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germline heterozygous variant of CTC1 gene (c.1360delG). This "frameshift" variant results in a premature stop codon and is classified as likely pathogenic/pathogenic. So far, this gene variant has been described in a heterozygous state in adult patients with hematological diseases such as idiopathic aplastic anemia or paroxysmal nocturnal hemoglobinuria, but also in interstitial pulmonary fibrosis. Described CTC1 gene variant affects telomere length and leads to telomeropathies.Conclusions: In our case report, we describe a rare case of coincidence of pulmonary fibrosis and hematological malignancy caused by a germline gene mutation in CTC1. Lung diseases and hematologic malignancies associated with short telomeres do not respond well to standard treatment.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30203 - Respiratory systems
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Multidisciplinary Respiratory Medicine
ISSN
1828-695X
e-ISSN
2049-6958
Volume of the periodical
18
Issue of the periodical within the volume
JUN 2023
Country of publishing house
IT - ITALY
Number of pages
5
Pages from-to
909
UT code for WoS article
001009940900001
EID of the result in the Scopus database
2-s2.0-85166355988