ArticleGenetics in medicine : official journal of the American College of Medical Genetics2006
Cystic Fibrosis testing among Arab-Americans.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- The health of Arab-Americans living in the United States: a systematic review of the literature.BMC public health · 2009Pooled it
- New Checkbox, Now What? A Scoping Review to Guide Health Research among Middle Eastern and North African Communities.Journal of racial and ethnic health disparities · 2026Article
- Clinical, paraclinical, and genetic profile of patients with cystic fibrosis from Colombian Caribbean.Heliyon · 2023Article
- The Health of Arab Americans in the United States: An Updated Comprehensive Literature Review.Frontiers in public health · 2018Article
- Article
- Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.Sultan Qaboos University medical journal · 2014Article
- Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2008Review
- A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature.Annals of thoracic medicineArticle
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeLimited data regarding the cystic fibrosis carrier frequency and mutation detection rate is available for Arab-Americans. We retrospectively determined the frequency of carriers among Arab-Americans undergoing preconception and prenatal carrier screening in our laboratories.
methodsBetween October, 2001 and June, 2005, we performed carrier screening on 805 Arab-Americans, testing for at least the original 25 mutations recommended by the American College of Medical Genetics. We compared our results to previously published studies among Arabic cystic fibrosis patients. We also performed diagnostic testing on seven individuals.
resultsSeven carriers were identified, with an observed carrier frequency of 1 in 115. The most common mutation we identified was W1282X (57% of the mutations detected), followed by DeltaF508 and R117H. Three of 7 patients with a known or suspected diagnosis had two identifiable mutations, including 1548delG, DeltaF508, W1282X, 2789 + 5G>A and R170H.
conclusionThe current recommended carrier screening panel includes only six mutations reported among Arabic cystic fibrosis patients, accounting for 37.1% of the mutations identified among this group. The addition of 1548delG, I1234V, H139L and 4010del4 as part of an extended screening panel would increase the detection rate to 66.3%, similar to the mutation detection rates in other races/ethnic groups.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.