Dataset Information
Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis
Ontology highlight
ABSTRACT: 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.
SUBMITTER: Hosseini Nami A
PROVIDER: S-EPMC9763878 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Publications
Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis
Iranian biomedical journal 20221101 5
<h4>Background</h4>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.<h4>Methods</h4>We conducted phenotypic examination, segregation, linkage analysis, and CFTR gene sequencing to define causative mutations.<h4>Results</h ...[more]