Balkan Journal of Medical Genetics

ULTRA-EARLY DIFFUSE LUNG DISEASE IN AN INFANT WITH PATHOGENIC VARIANT IN TELOMERASE REVERSE TRANSCRIPTASE (TERT) GENE
Visekruna J, Basa M, Grba T, Andjelkovic M, Pavlovic S, Nathan N, Sovtic A
*Corresponding Author: Ass. Prof. Aleksandar Sovtic, Department of Pulmonology, Mother and Child Health Institute of Serbia, Belgrade, Serbia, School of Medicine, University of Belgrade, Serbia; Email: aleksandar.sovtic@med.bg.ac.rs; Address: 6 Radoja Dakica, 11070 Belgrade, Serbia; Phone: +381 11 3108 158
page: 59

INTRODUCTION

Diffuse lung disease in children is characterized by a heterogeneous clinical presentation and radiological and prognostic features [1-3]. In adults, idiopathic pulmonary fibrosis (IPF) can be a consequence of telomere-related gene mutations, including telomerase reverse transcriptase (TERT) gene mutations which are associated with short telomere syndromes [4]. Telomeres are nucleoprotein structures with DNA repetitive sequences that protect chro- mosome ends and maintain chromosome stability, limit progressive shortening during cell replication, and prevent recombination at chromosome ends [5]. Telomere shorten- ing leads to genomic instability, inducing DNA damage responses such as apoptosis and cell senescence [5]. IPF associated with pathogenic variants in the TERT gene is typically an age-dependent disease with clinical expression by the age of 50 years or later. The anticipation phenomenon refers to the earlier presentation of symptoms in younger generations [4]. In addition to previously described germline muta- tions in the TERT gene in children with malignant diseases, no association with childhood-onset pulmonary disease has been observed [6]. Here we present the case of a child with early onset respiratory failure associated with a pathogenic variant in the TERT gene.

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