CFTR Variant Analysis of Patients With Cystic Fibrosis in Mazandaran Province, North of Iran

Background: Cystic fibrosis (CF) is a monogenic autosomal recessive disorder caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR) gene on chromosome ۷. While the ΔF۵۰۸ mutation is globally predominant, accounting for about ۷۰% 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 ۱۷ patients with CF (۷ males and ۱۰ females) from unrelated families in Mazandaran Province. The polymerase chain reaction (PCR)-Sanger sequencing was used to find common CFTR pathogenic variants in ۱۴ 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.۱۹۹۱۱del emerging as the most frequent (۲۵% of mutant alleles), surpassing the globally dominant ΔF۵۰۸ variant.  Conclusions: The findings highlight the region-specific genetic landscape of CF and emphasize the need for tailored diagnostic strategies in Iran.

کلیدواژه ها:

Cystic fibrosis (CF) ، Cystic fibrosis transmembrane conductance regulator (CFTR) gene ، Whole exome sequencing ، Pathogenic variants ، Iran