Background: Cystic fibrosis (CF) is the most common heredity disease among the Caucasian population. More than 350 known pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (NM_000492.4) cause CF. Herein, we report the outcome of our investigation in two unrelated Iranian families with CF patients.
Methods: We conducted phenotypic examination, segregation, linkage analysis, and CFTR gene sequencing to define causative mutations.
Results: We found two novel mutations in the present study. The first one was a deletion causing frameshift,c.299delT p.(Leu100profs*7), and the second one was a missense mutation, c. 1857G>T., at nucleotide binding domain 1 of the CFTR protein. Haplotype segregation data supported our new mutation findings.
Conclusion: Findings of this study expand the spectrum of CFTR pathogenic variations and can improve prenatal diagnosis and genetic counseling for CF.
Hosseini Nami, A., Kabiri, M. & Zeinali, S. (2022). Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis. Iranian Biomedical Journal, 26(5), 398–405. https://doi.org/10.52547/ibj.3713
MLA
Hosseini Nami, A., Kabiri, M., & Zeinali, S. "Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis", Iranian Biomedical Journal, 26, 5, 2022, 398–405. doi: 10.52547/ibj.3713
HARVARD
Hosseini Nami, A., Kabiri, M., & Zeinali, S. (2022). 'Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis', Iranian Biomedical Journal, 26(5), pp. 398–405. doi: 10.52547/ibj.3713
CHICAGO
Hosseini Nami, A., Kabiri, M. & Zeinali, S., "Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis." Iranian Biomedical Journal, 26 5 (2022): 398–405, doi: 10.52547/ibj.3713
VANCOUVER
Hosseini Nami A., Kabiri M., Zeinali S. Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis. Iranian Biomedical Journal. 2022;26(5):398–405. doi: 10.52547/ibj.3713
