ArticleIranian journal of pediatrics2013
Clinical and genetic features in patients with cystic fibrosis in southwestern iran.
Article in Iranian journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- Microbial contamination of home nebulizers in children with cystic fibrosis and clinical implication on the number of pulmonary exacerbations.BMC pulmonary medicine · 2020Observational
- Article
- Allergic bronchopulmonary aspergillosis in patients with cystic fibrosis and non-cystic fibrosis bronchiectasis.Electronic physician · 2018Article
- A fuzzy rule-based expert system for diagnosing cystic fibrosis.Electronic physician · 2017Article
- Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.Iranian biomedical journal · 2016Article
- Association of TNF-α Gene Variants With Clinical Manifestation of Cystic Fibrosis Patients of Iranian Azeri Turkish Ethnicity.Iranian journal of pediatrics · 2015Article
- Dermatoglyphic patterns in cystic fibrosis children.Iranian journal of pediatrics · 2014Article
- Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis.World journal of clinical cases · 2014Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveCystic fibrosis (CF) is a common autosomal recessive genetic disease caused by a mutation in the CF transmembrane conductance regulatory (CFTR) gene. This study attempted to identify the most common CFTR mutations and any correlations between certain mutations and the clinical presentation of the disease in CF patients in southwestern Iran.
methodsTwenty nine common CFTR gene mutations were examined in 45 CF patients.
findingsChronic cough, intestinal obstruction, dehydration, heat exhaustion and steatorrhea were the most common early clinical symptoms among our patients. The most common mutation was ΔF508, with an allele frequency of 21%. The homozygous ΔF508 mutation was observed in eight patients (18%), and three patients (7%) were ΔF508 carriers. The 2183AA > G mutation was observed in four patients, one of whom was also a ΔF508 carrier. The R1162X mutation was detected in two patients. The G542X, R334W and N1303K mutations were detected each in one patient, the first of whom was also a ΔF508 carrier.
conclusionOut of 45 patients, 27 (60%) had none of the CFTR gene mutations we tested for. The most frequent mutations in southwestern Iranian patients with CF should be identified by sequencing the entire CFTR gene in order to optimize the design of a diagnostic kit for common regional mutations.
Indexed as
Identifiers
23724185PMC3663315W1824208068What OpenQuestion holds
Registered trials
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