Reporting two novel mutations in two Iranian families with cystic fibrosis, molecular and bioinformatic analysis

Background: Cystic fibrosis is the most common heredity disease among the Caucasian population. More than 350 known pathogenic variations in the CFTR gene (NM_000492.4) cause cystic fibrosis. Herein, we report the outcome of our investigation of two unrelated Iranian families with cystic fibrosis pa...

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Bibliographic Details
Published in:Iranian biomedical journal 2022-10, Vol.26 (5), p.8
Main Authors: Amin Hosseini Nami, Kabiri, Mahboubeh, Zeinali, Sirous
Format: Article
Language:English
Subjects:
Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator
Gene deletion
Gene sequencing
Genetic counseling
Genetic screening
Haplotypes
Heredity
Linkage analysis
Missense mutation
Mutation
Nucleotides
Prenatal diagnosis
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Summary:Background: Cystic fibrosis is the most common heredity disease among the Caucasian population. More than 350 known pathogenic variations in the CFTR gene (NM_000492.4) cause cystic fibrosis. Herein, we report the outcome of our investigation of two unrelated Iranian families with cystic fibrosis patients. Methods: We conducted phenotypic examination, segregation, and linkage analysis, and CFTR gene sequencing to define causative mutations. Results: Two novel mutations were found. 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: These findings expand the spectrum of CFTR pathogenic variations and can improve prenatal diagnosis and genetic counseling for cystic fibrosis.
ISSN:1028-852X
2008-823X