Defning a Mutational Panel and Predicting the Prevalence of Cystic Fibrosis in Oman
Journal Title: Sultan Qaboos University Medical Journal - Year 2014, Vol 14, Issue 3
Abstract
Objectives: Cystic fbrosis transmembrane conductance regulator (CFTR) mutations form distinct mutational panels in different populations and subgroups. Te frequency of cystic fbrosis (CF) mutations and prevalence are unknown in Oman. Tis 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. Methods: Te 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. Te obtained mutational panel was used for the carrier screening of 408 alleles of unrelated and unaffected Omani individuals. Results: S549R 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 identifed in the patient cohort. Two carriers, one for F508del and another for S549R, were identifed by screening of the volunteer cohort, resulting in a predicted prevalence for Oman of 1 in 8,264. Te estimated carrier frequency of CF in Oman was 1 in 94. Te carrier frequency in the NAB region was 3.9 times higher. Conclusion: Te mutational panel for the NAB region and the high proportion of S549R mutations emphasises the need for specifc screening for CF in Oman. Te different distribution of allele frequencies suggests a spatial clustering of CF in the NAB region.
Authors and Affiliations
Uwe W. Fass| epartment of Biochemistry & Genetics, Oman Medical College, Sohar, Oman, Majid Al-Salmani| epartment of Biochemistry & Genetics, Oman Medical College, Sohar, Oman, Said Bendahhou| Laboratoire d’Excellence - Ion Channel Science andTherapeutics, LP2M, UMR 7370 CNRS, Faculté de Médecine, Université Nice-Sophia Antipolis, Nice, France, Ganji Shivalingam| Departments of Pediatrics, Sohar Regional Teaching Hospital, Sohar, Oman, Catherine Norrish| epartment of Biochemistry & Genetics, Oman Medical College, Sohar, Oman, Kallesh Hebal| Departments of Pediatrics, Sohar Regional Teaching Hospital, Sohar, Oman, Fiona Clark| Departments of Physiotherapy, Sohar Regional Teaching Hospital, Sohar, Oman, Tomas Heming| epartment of Biochemistry & Genetics, Oman Medical College, Sohar, Oman, Saleh Al-Khusaiby| epartment of Biochemistry & Genetics, Oman Medical College, Sohar, Oman
Keywords
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