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Paper Information

Journal:   IRANIAN BIOMEDICAL JOURNAL   2016 , Volume 20 , Number 4; Page(s) 201 To 206.
 
Paper: 

NOVEL CFTR MUTATIONS IN TWO IRANIAN FAMILIES WITH SEVERE CYSTIC FIBROSIS

 
DOI: 

10.7508/ibj.2016.04.003

 
Author(s):  MOHSENI MARZIEH, RAZZAGHMANESH MOHAMMAD, PARSIMEHR ELHAM, ZARE HANIEH, BEHESHTIAN MARYAM, NAJMABADI HOSSEIN*
 
* GENETICS RESEARCH CENTER, UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES, KOODAKYAR AVENUE, EVIN, TEHRAN 1985713834, IRAN
 
Abstract: 

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF.
Methods: After DNA extraction using the salting out method, a mutation panel consisting of 35 common mutations was tested by PCR, followed by reverse hybridization Strip Assay. To confirm the mutations, we have also performed Sanger sequencing for all 27 exons, intronic flanking regions, and 5' and 3' UTRs of the CFTR gene.
Results: Carrier testing in a spouse revealed a novel nonsense mutation in the CFTR gene (c.2777 T>A (p.L926X)) in exon 17 for husband and a previously described heterozygous splice site pathogenic mutation (c.1393-1G>A) in his wife. The other novel compound heterozygous missense mutation (c.3119 T>A (p.L1040H)), which was previously reported as nonsense c.3484C>T (p.R1162X) mutation, was found in exon 19 in patient screening.
Conclusion: Two novel CFTR mutations in exons 17 and 19 are responsible for CF with severe phenotypes in two Iranian families. These two mutations supplement the mutation spectrum of CFTR and may contribute to a better understanding of CFTR protein function.

 
Keyword(s): CYSTIC FIBROSIS, CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR PROTEIN, MUTATION, SEQUENCE ANALYSIS, IRAN
 
 
References: 
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Citations: 
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+ Click to Cite.
APA: Copy

MOHSENI, M., & RAZZAGHMANESH, M., & PARSIMEHR, E., & ZARE, H., & BEHESHTIAN, M., & NAJMABADI, H. (2016). NOVEL CFTR MUTATIONS IN TWO IRANIAN FAMILIES WITH SEVERE CYSTIC FIBROSIS. IRANIAN BIOMEDICAL JOURNAL, 20(4), 201-206. https://www.sid.ir/en/journal/ViewPaper.aspx?id=511700



Vancouver: Copy

MOHSENI MARZIEH, RAZZAGHMANESH MOHAMMAD, PARSIMEHR ELHAM, ZARE HANIEH, BEHESHTIAN MARYAM, NAJMABADI HOSSEIN. NOVEL CFTR MUTATIONS IN TWO IRANIAN FAMILIES WITH SEVERE CYSTIC FIBROSIS. IRANIAN BIOMEDICAL JOURNAL. 2016 [cited 2021July30];20(4):201-206. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=511700



IEEE: Copy

MOHSENI, M., RAZZAGHMANESH, M., PARSIMEHR, E., ZARE, H., BEHESHTIAN, M., NAJMABADI, H., 2016. NOVEL CFTR MUTATIONS IN TWO IRANIAN FAMILIES WITH SEVERE CYSTIC FIBROSIS. IRANIAN BIOMEDICAL JOURNAL, [online] 20(4), pp.201-206. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=511700.



 
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