Germline variant of CTC1 gene in a patient with pulmonary
fibrosis and myelodysplastic syndrome

J 2023

Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome

DOUBKOVÁ, Martina, Zuzana VRZALOVÁ, Marianna ŠTEFÁNIKOVÁ, Libor ČERVINEK, Kateřina STAŇO KOZUBÍK et. al.

Basic information

Original name

Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome

Authors

DOUBKOVÁ, Martina (203 Czech Republic, guarantor, belonging to the institution), Zuzana VRZALOVÁ (203 Czech Republic, belonging to the institution), Marianna ŠTEFÁNIKOVÁ (703 Slovakia, belonging to the institution), Libor ČERVINEK (203 Czech Republic, belonging to the institution), Kateřina STAŇO KOZUBÍK (203 Czech Republic, belonging to the institution), Ivona BLAHÁKOVÁ (203 Czech Republic, belonging to the institution), Šárka POSPÍŠILOVÁ (203 Czech Republic, belonging to the institution) and Michael DOUBEK (203 Czech Republic, belonging to the institution)

Edition

MULTIDISCIPLINARY RESPIRATORY MEDICINE, PAVIA, PAGEPRESS PUBL, 2023, 1828-695X

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30203 Respiratory systems

Country of publisher

Italy

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 2.300 in 2022

RIV identification code

RIV/00216224:14110/23:00131222

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.4081/mrm.2023.909

UT WoS

001009940900001

Keywords in English

CTC1 gene; interstitial pulmonary fibrosis; myelodysplastic syndrome

Abstract

V originále

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.

Citovat

DOUBKOVÁ, Martina, Zuzana VRZALOVÁ, Marianna ŠTEFÁNIKOVÁ, Libor ČERVINEK, Kateřina STAŇO KOZUBÍK, Ivona BLAHÁKOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome. MULTIDISCIPLINARY RESPIRATORY MEDICINE. PAVIA: PAGEPRESS PUBL, 2023, vol. 18, June 2023, p. 1-5. ISSN 1828-695X. Available from: https://dx.doi.org/10.4081/mrm.2023.909.

@article{2297217,
   author = {Doubková, Martina and Vrzalová, Zuzana and Štefániková, Marianna and Červinek, Libor and Staňo Kozubík, Kateřina and Blaháková, Ivona and Pospíšilová, Šárka and Doubek, Michael},
   article_location = {PAVIA},
   article_number = {June 2023},
   doi = {http://dx.doi.org/10.4081/mrm.2023.909},
   keywords = {CTC1 gene; interstitial pulmonary fibrosis; myelodysplastic syndrome},
   language = {eng},
   issn = {1828-695X},
   journal = {MULTIDISCIPLINARY RESPIRATORY MEDICINE},
   title = {Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome},
   url = {https://mrmjournal.org/mrm/article/view/909},
   volume = {18},
   year = {2023}
}

TY  - JOUR
ID  - 2297217
AU  - Doubková, Martina - Vrzalová, Zuzana - Štefániková, Marianna - Červinek, Libor - Staňo Kozubík, Kateřina - Blaháková, Ivona - Pospíšilová, Šárka - Doubek, Michael
PY  - 2023
TI  - Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome
JF  - MULTIDISCIPLINARY RESPIRATORY MEDICINE
VL  - 18
IS  - June 2023
SP  - 1-5
EP  - 1-5
PB  - PAGEPRESS PUBL
SN  - 1828695X
KW  - CTC1 gene
KW  - interstitial pulmonary fibrosis
KW  - myelodysplastic syndrome
UR  - https://mrmjournal.org/mrm/article/view/909
N2  - 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.
ER  -

DOUBKOVÁ, Martina, Zuzana VRZALOVÁ, Marianna ŠTEFÁNIKOVÁ, Libor ČERVINEK, Kateřina STAŇO KOZUBÍK, Ivona BLAHÁKOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome. \textit{MULTIDISCIPLINARY RESPIRATORY MEDICINE}. PAVIA: PAGEPRESS PUBL, 2023, vol.~18, June 2023, p.~1-5. ISSN~1828-695X. Available from: https://dx.doi.org/10.4081/mrm.2023.909.

Detailed Information on Publication Record