Abstract
BackgroundCystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria.ResultsThe mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries.ConclusionCystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.
Highlights
Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
The first group included 31 previously diagnosed CF patients; their ages ranged between 3 months and 15 years years; 18 (58.06%) of them were males and 13 (41.94%) were females (M:F ratio of 1.38: 1)
All patients included in this group had a sweat chloride value ranging between (61 and 132 mmol/L) with a mean ± SD of 97.13 ± 21.51 mmol/L; 18 (58.1%) patients had elevated liver enzymes (ALT, Aspartate aminotransferase (AST), and Alkaline phosphatase (ALP)); 13 (41.9%) had elevated total serum bilirubin, while 12 (38.7%) patients had a low total serum protein
Summary
Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Incidence and genotyping of CF are under-identified in Iraq. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Cystic fibrosis (CF; MIM #219700) is an inherited autosomal recessive disorder with multisystem manifestations [1]. The incidence differs concerning the ethnic and geographic background as well as the degree of consanguinity [3]. CF is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene that spans about 250 kb of genomic DNA; it is located at Generally, mutations associated with clinical manifestations are grouped into six main classes depending on how they affect protein structure and function. Other features can be present like kidney and endocrine gland
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