Literature DB >> 35282428

Can We Justify Cystic Fibrosis Mutational Analysis among Omani Neonates?

Mahmood Dhahir Al-Mendalawi1.   

Abstract

Entities:  

Year:  2022        PMID: 35282428      PMCID: PMC8898330          DOI: 10.5001/omj.2022.44

Source DB:  PubMed          Journal:  Oman Med J        ISSN: 1999-768X


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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.
  5 in total

Review 1.  Assessing the cost of cystic fibrosis diagnosis and treatment.

Authors:  Marjorie A Rosenberg; Philip M Farrell
Journal:  J Pediatr       Date:  2005-09       Impact factor: 4.406

2.  Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.

Authors:  Uwe W Fass; Majid Al-Salmani; Said Bendahhou; Ganji Shivalingam; Catherine Norrish; Kallesh Hebal; Fiona Clark; Thomas Heming; Saleh Al-Khusaiby
Journal:  Sultan Qaboos Univ Med J       Date:  2014-07-24

3.  Consanguineous marriage in Oman: understanding the community awareness about congenital effects of and attitude towards consanguineous marriage.

Authors:  M Mazharul Islam
Journal:  Ann Hum Biol       Date:  2016-09-07       Impact factor: 1.533

Review 4.  Cystic fibrosis in the year 2020: A disease with a new face.

Authors:  Kris De Boeck
Journal:  Acta Paediatr       Date:  2020-01-22       Impact factor: 2.299

5.  A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report.

Authors:  Said Al Balushi; Younis Al Balushi; Moza Al Busaidi; Latifa Al Mutawa
Journal:  Oman Med J       Date:  2021-03-31
  5 in total

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