AUTHOR=Hosseini Nami Amin , Kabiri Mahboubeh , Zafarghandi Motlagh Fatemeh , Shirzadeh Tina , Fakhari Negar , Karimi Ali , Bagherian Hamideh , Jamali Mojdeh , Younesikhah Shahrzad , Shadman Sara , Zeinali Razie , Zeinali Sirous 

TITLE=Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade

JOURNAL=Frontiers in Genetics

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1140034

DOI=10.3389/fgene.2023.1140034

ISSN=1664-8021

ABSTRACT=<p><bold>Objectives:</bold> Cystic fibrosis (CF) is the most prevalent autosomal recessive disorder among Caucasians. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause this pathology. We, therefore, aimed to describe the CFTR mutations and their geographical distribution in Iran.</p><p><bold>Method:</bold> The mutation spectrum for 87 families from all Iranian ethnicities was collected using ARMS PCR, Sanger sequencing, and MLPA.</p><p><bold>Results:</bold> Mutations were identified in 95.8% of cases. This dataset revealed that the most frequent mutations in the Iranian population were F508del, c.1000C&gt;T, c.1397C&gt;G, c.1911delG, and c.1393-1G&gt;A. In addition, we found weak evidence for Turkey being the possible geographical pathway for introducing CFTR mutations into Iran by mapping the frequency of CFTR mutations.</p><p><bold>Conclusion:</bold> Our descriptive results will facilitate the genetic detection and prenatal diagnosis of cystic fibrosis within the Iranian population.</p>