Screening by high‐throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies

This short report documented cystic fibrosis transmembrane conductance regulator (CFTR) variants in 37 patients with cystic fibrosis (CF) in the Rio Grande do Norte region of Northeast Brazil. The high‐throughput sequencing technology (HTS) genetic testing provided a definitive molecular diagnosis i...

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Bibliographic Details
Published in:Journal of cellular and molecular medicine 2022-12, Vol.26 (23), p.5943-5947
Main Authors: de Melo, Ana Cristina Vieira, de Souza, Karla Simone Costa, Silva, Heglayne Pereira Vital, Maia, Jussara Melo de Cerqueira, Dantas, Vera Maria, Bezerra, João Felipe, Rezende, Adriana Augusto
Format: Article
Language:English
Subjects:
Age
Body mass index
CFTR gene
CFTR modulators therapies
Child
Chloride
Chloride Channel Agonists - adverse effects
Cystic fibrosis
Cystic Fibrosis - drug therapy
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Drug Combinations
Genetic screening
High-Throughput Nucleotide Sequencing
high‐throughput sequencing
Humans
Mutation
Mutation - genetics
Patients
Proteins
Short Communication
variants
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Summary:This short report documented cystic fibrosis transmembrane conductance regulator (CFTR) variants in 37 patients with cystic fibrosis (CF) in the Rio Grande do Norte region of Northeast Brazil. The high‐throughput sequencing technology (HTS) genetic testing provided a definitive molecular diagnosis in 31 patients (83.8%). Among them, 25 patients' carriers of the c.1521_1523delCTT variant, categorized as a class 2 mutation, can be currently treated with CFTR modulator drugs. Five children aged 2–5 years could benefit from double lumacaftor/ivacaftor therapy, and 20 patients aged >6 years could be treated with the triple‐combination elexacaftor/tezacaftor/ivacaftor therapy. Thus, the identification of pathogenic variants associated with the development of this disease allows for the introduction of therapy with CFTR modulators that favour better patient management.
ISSN:1582-1838
1582-4934
DOI:10.1111/jcmm.17605