ArticleSultan Qaboos University medical journal2014
Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.
Article in Sultan Qaboos University medical journal, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Nutritional Care in Cystic Fibrosis Across the Arab World: Regional Heterogeneity, Current Evidence, and Future Directions.Nutrients · 2026Review
- Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.BMC pediatrics · 2024Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.Oman medical journal · 2022Article
- Can We Justify Cystic Fibrosis Mutational Analysis among Omani Neonates?Oman medical journal · 2022Article
- Letter in Reply: Can We Justify Cystic Fibrosis Mutational Analysis among Omani Neonates?Oman medical journal · 2022Article
- The Cystic Fibrosis Symptom Progression Survey (CF-SPS) in Arabic: A Tool for Monitoring Patient's Symptoms.Oman medical journal · 2015Article
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Authors and funding
9 authors.
Funding
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Abstract
objectivesCystic fibrosis transmembrane conductance regulator (CFTR) mutations form distinct mutational panels in different populations and subgroups. The frequency of cystic fibrosis (CF) mutations and prevalence are unknown in Oman. This study aimed to elucidate the mutational panel and prevalence of CF for the North Al Batinah (NAB) region in Oman and to estimate the national prevalence of CF based on the carrier screening of unrelated volunteers.
methodsThe study included retrospective and prospective analyses of CF cases in the NAB region for 1998-2012. Genetic analysis of disease-causing mutations was conducted by screening of the entire coding sequence and exon-intron borders. The obtained mutational panel was used for the carrier screening of 408 alleles of unrelated and unaffected Omani individuals.
resultsS549R and F508del were the major mutations, accounting for 89% of mutations in the patient population. Two private mutations, c.1733-1734delTA and c.1175T>G, were identified in the patient cohort. Two carriers, one for F508del and another for S549R, were identified by screening of the volunteer cohort, resulting in a predicted prevalence for Oman of 1 in 8,264. The estimated carrier frequency of CF in Oman was 1 in 94. The carrier frequency in the NAB region was 3.9 times higher.
conclusionThe mutational panel for the NAB region and the high proportion of S549R mutations emphasises the need for specific screening for CF in Oman. The different distribution of allele frequencies suggests a spatial clustering of CF in the NAB region.
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