Dear Editor,

In the March 2021 issue of the Oman Medical Journal by Al Balushi et al,1 reported a novel cystic fibrosis (CF) gene mutation C.4242+1G>C in an Omani neonate. The reported mutation expands the spectrum of CF mutations in Oman already addressed in the literature. I agree with the authors’ call on the need for extensive genetic testing for CF diagnosis during the neonatal period. This is based on the following dual points. First, CF is a cumbersome disease in Oman. The available data pointed out the predicted CF prevalence of 1 in 8264 and the estimated carrier frequency of CF of 1 in 94.2 Second, consanguinity, a major risk factor for CF cases, is a common phenomenon in Oman. The published data revealed that consanguineous marriage is culturally preferred in Oman, accounting for 49% of marriages.3 Although genetic testing for CF mutations improves the diagnosis of symptomatic patients and helps identify asymptomatic carriers and at-risk couples, two factors might hamper its implementation among Omani neonates. First, the undetermined mutations are sizable, and > 2000 different mutations have been detected worldwide.4 Second, the large number of tested mutations among neonates, which is essential for the better efficiency of testing, implies more financial cost.5 Nevertheless, mutational analysis remains a justifiable option to contain a further rise in CF prevalence in Oman and minimize its long-term detrimental effects.

references

1. 1. Al Balushi S, Al Balushi Y, Al Busaidi M, Al Mutawa L. A Novel cystic fibrosis gene mutation C.4242+1G>C in an Omani patient: a case report. Oman Med J 2021 Mar;36(2):e243.
2. 2. Fass UW, Al-Salmani M, Bendahhou S, Shivalingam G, Norrish C, Hebal K, et al. Defining a mutational panel and predicting the prevalence of cystic fibrosis in Oman. Sultan Qaboos Univ Med J 2014 Aug;14(3):e323-e329.
3. 3. Mazharul Islam M. Consanguineous marriage in Oman: understanding the community awareness about congenital effects of and attitude towards consanguineous marriage. Ann Hum Biol 2017 May;44(3):273-286.
4. 4. De Boeck K. Cystic fibrosis in the year 2020: a disease with a new face. Acta Paediatr 2020 May;109(5):893-899.
5. 5. Rosenberg MA, Farrell PM. Assessing the cost of cystic fibrosis diagnosis and treatment. J Pediatr 2005 Sep;147(3)(Suppl):S101-S105.