Wed, Sep 30, 2026
Volume 14, Issue 3 (9-2026)
J. Pediatr. Rev 2026, 14(3): 301-308 |
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Hokmabadi S, Jalali H, Amirzadegan M, Mahdavi M R. CFTR Variant Analysis of Patients With Cystic Fibrosis in Mazandaran Province, North of Iran. J. Pediatr. Rev 2026; 14 (3) :301-308
URL: http://jpr.mazums.ac.ir/article-1-823-en.html
URL: http://jpr.mazums.ac.ir/article-1-823-en.html
1- Department of Pediatrics, Bou Ali Sina Hospital, Mazandaran University of Medical Sciences, Sari, Iran.
2- Thalassemia Research Center, Hemoglobinopathies Institute, Mazandaran University of Medical Sciences, Sari, Iran.
3- Sinaye Mehr Research Center, Mazandaran University of Medical Sciences Sari,Iran.
4- Thalassemia Research Center, Hemoglobinopathies Institute, Mazandaran University of Medical Sciences, Sari, Iran. ,Mahdavi899@gmail.com
2- Thalassemia Research Center, Hemoglobinopathies Institute, Mazandaran University of Medical Sciences, Sari, Iran.
3- Sinaye Mehr Research Center, Mazandaran University of Medical Sciences Sari,Iran.
4- Thalassemia Research Center, Hemoglobinopathies Institute, Mazandaran University of Medical Sciences, Sari, Iran. ,
Abstract: (22 Views)
Background: Cystic fibrosis (CF) is a monogenic autosomal recessive disorder caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR) gene on chromosome 7. While the ΔF508 mutation is globally predominant, accounting for about 70% of CF cases, Iran exhibits a highly heterogeneous CFTR mutation spectrum.
Objectives: This study aimed to investigate the molecular profile of CF in people from Mazandaran Province, northern Iran.
Methods: We included 17 patients with CF (7 males and 10 females) from unrelated families in Mazandaran Province. The polymerase chain reaction (PCR)-Sanger sequencing was used to find common CFTR pathogenic variants in 14 patients, while whole exome sequencing (WES) and confirmatory Sanger testing were used to identify rare or novel variants in three patients.
Results: Nine distinct pathogenic variants were identified, with c.19911del emerging as the most frequent (25% of mutant alleles), surpassing the globally dominant ΔF508 variant.
Conclusions: The findings highlight the region-specific genetic landscape of CF and emphasize the need for tailored diagnostic strategies in Iran.
Objectives: This study aimed to investigate the molecular profile of CF in people from Mazandaran Province, northern Iran.
Methods: We included 17 patients with CF (7 males and 10 females) from unrelated families in Mazandaran Province. The polymerase chain reaction (PCR)-Sanger sequencing was used to find common CFTR pathogenic variants in 14 patients, while whole exome sequencing (WES) and confirmatory Sanger testing were used to identify rare or novel variants in three patients.
Results: Nine distinct pathogenic variants were identified, with c.19911del emerging as the most frequent (25% of mutant alleles), surpassing the globally dominant ΔF508 variant.
Conclusions: The findings highlight the region-specific genetic landscape of CF and emphasize the need for tailored diagnostic strategies in Iran.
Keywords: Cystic fibrosis (CF), Cystic fibrosis transmembrane conductance regulator (CFTR) gene, Whole exome sequencing, Pathogenic variants, Iran
Type of Study: Original Article |
Subject:
Pulmonology
Received: 2025/11/10 | Accepted: 2026/09/19 | Published: 2026/09/19
Received: 2025/11/10 | Accepted: 2026/09/19 | Published: 2026/09/19
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