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Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene

J Visekruna

J Visekruna

Department of Pulmonology, Mother and Child Health Institute of SerbiaBelgrade, Serbia
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Visekruna, J
, 
M Basa

M Basa

Department of Pulmonology, Mother and Child Health Institute of SerbiaBelgrade, Serbia
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Basa, M
, 
T Grba

T Grba

Department of Pulmonology, Mother and Child Health Institute of SerbiaBelgrade, Serbia
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Grba, T
, 
M Andjelkovic

M Andjelkovic

Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Andjelkovic, M
, 
S Pavlovic

S Pavlovic

Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Pavlovic, S
, 
N Nathan

N Nathan

  • AP-HP, Sorbonne Université, Pediatric Pulmonology Department and Reference Centre for Rare Lung Disease RespiRare, Armand Trousseau HospitalParis, France
  • Sorbonne Université, Inserm UMR_S933 Laboratory of Childhood Genetic Diseases, Armand Trousseau HospitalParis, France
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Nathan, N
 und 
A Sovtic

A Sovtic

  • Department of Pulmonology, Mother and Child Health Institute of SerbiaBelgrade, Serbia
  • School of Medicine, University of BelgradeSerbia
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Sovtic, A
  
06. Sept. 2024
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Artikel-Kategorie: Case Report
Online veröffentlicht: 06. Sept. 2024
Seitenbereich: 59 - 63
DOI: https://doi.org/10.2478/bjmg-2024-0008
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© 2024 J Visekruna et al., published by Sciendo
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Figure 1.

Chest CT scan. A) Initial finding – consolidations, intralobular thickening and mirror ground-glass opacifications. B) A follow up CT scan six months later – bilateral consolidations with fibroindurative lesion or plate-like atelectasis, and mild septal thickening.
Chest CT scan. A) Initial finding – consolidations, intralobular thickening and mirror ground-glass opacifications. B) A follow up CT scan six months later – bilateral consolidations with fibroindurative lesion or plate-like atelectasis, and mild septal thickening.

Figure 2.

In silico analysis of the impact of the detected variant in the TERT gene. A) Schematic representation of sixteen exons in the TERT gene and marked detected loss of function variant in exon 2. B) Percentage ratio of pathogenic, likely pathogenic, VUS, and benign variants in the coding region of the TERT gene. C) Three-dimensional molecular models of TERT wild-type and mutated proteins. D) The protein-protein interaction network of TERT and interactors.
In silico analysis of the impact of the detected variant in the TERT gene. A) Schematic representation of sixteen exons in the TERT gene and marked detected loss of function variant in exon 2. B) Percentage ratio of pathogenic, likely pathogenic, VUS, and benign variants in the coding region of the TERT gene. C) Three-dimensional molecular models of TERT wild-type and mutated proteins. D) The protein-protein interaction network of TERT and interactors.
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