A new compound heterozygote mutation in cystic fibrosis

Background and Aim: Cystic fibrosis (CF, MIM# ۲۱۹۷۰۰) is one of the most common autosomal recessive disorders in the world. It is frequently varied between different populations. Since the CFTR gene was identified as being responsible for CF, about ۲۰۰۰ variants have been detected, with the deletion of phenylalanine at the position ۵۰۸ (c.۱۵۲۱_۱۵۲۳delCTT, p.Phe۵۰۸del, ΔF۵۰۸) being the most frequent worldwide. The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene.Methods: Blood samples were collected in CBC tubes. DNA extraction was performed with macherey nagel kit.After primer design, PCR reaction was performed Finally, the data were analyzed Results: we fiend a new compound heterozygus mutation in a ۹-year-old male patient who is involved in a compound heterozygote for CFTR gene, with the mutations (c.۳۱۹۶C>T) and (c.۱۵۴۵delTA) detected.The primary of CF presentation occurred at the age of ۸ in the form of gastrointestinal symptoms and high sweating.Conclusion: The combination of the two mutations is very rare in CF patients. (c.۳۱۹۶C>T) variant has been reported as a pathogenic one, but (c.۱۵۴۵delTA) variant has not been identified as a pathogen and it is kind of a frameshift mutation. It is valuable to document this case in order to provide information on disease progression, therapy options, and outcomes.

Keywords:

Cystic fibrosis , CFTR , compound heterozygote