Genetic Attributes of Iranian Cystic Fibrosis Patients: the Diagnostic Efficiency of CFTR Mutations in over a Decade

Overview

Journal Front Genet

Date 2023 Jun 5

PMID 37274793

Authors

Amin Hosseini Nami

Mahboubeh Kabiri

Fatemeh Zafarghandi Motlagh

Tina Shirzadeh

Negar Fakhari

Ali Karimi

Hamideh Bagherian

Mojdeh Jamali

Shahrzad Younesikhah

Sara Shadman

Razie Zeinali

Sirous Zeinali

Affiliations

Soon will be listed here.

Abstract

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. The mutation spectrum for 87 families from all Iranian ethnicities was collected using ARMS PCR, Sanger sequencing, and MLPA. Mutations were identified in 95.8% of cases. This dataset revealed that the most frequent mutations in the Iranian population were F508del, c.1000C>T, c.1397C>G, c.1911delG, and c.1393-1G>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. Our descriptive results will facilitate the genetic detection and prenatal diagnosis of cystic fibrosis within the Iranian population.

Citing Articles

Population Characteristics of the Spectrum and Frequencies of Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).

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