Cystic fibrosis in the African diaspora

dc.contributor.authorStewart, Cheryl
dc.contributor.authorPepper, Michael Sean
dc.contributor.emailmichael.pepper@up.ac.zaen_ZA
dc.date.accessioned2017-02-02T10:18:03Z
dc.date.available2017-02-02T10:18:03Z
dc.date.issued2017-01
dc.description.abstractIdentifying mutations that cause cystic fibrosis (CF) is important for making an early, unambiguous diagnosis, which, in turn, is linked to better health and a greater life expectancy. In patients of African descent, a molecular diagnosis is often confounded by the fact that the majority of investigations undertaken to identify causative mutations have been conducted on European populations, and CF-causing mutations tend to be population specific. We undertook a survey of published data with the aim of identifying causative CF mutations in patients of African descent in the Americas. We found that 1,584 chromosomes had been tested in only 6 countries, of which 876 alleles (55.3%) still remained unidentified. There were 59 mutations identified. Of those, 41 have been shown to cause CF, 17 have no associated functional studies, and one (R117H) is of varying clinical consequence. The most common mutations identified in the patients of African descent were: ΔF508 (29.4% identified in the United States, Colombia, Brazil, and Venezuela); 3120 + 1G>A (8.4% identified in Brazil, the United States, and Colombia); G85E (3.8% identified in Brazil); 1811 + 1.6kbA>G (3.7% identified in Colombia); and 1342 − 1G>C (3.1% identified in the United States). The majority of the mutations identified (81.4%) have been described in just one country. Our findings indicate that there is a need to fully characterize the spectrum of CF mutations in the diaspora to improve diagnostic accuracy for these patients and facilitate treatment.en_ZA
dc.description.departmentImmunologyen_ZA
dc.description.librarianhb2017en_ZA
dc.description.urihttp://www.atsjournals.org/journal/annalsatsen_ZA
dc.identifier.citationStewart, C & Pepper, MS 2017, 'Cystic fibrosis in the African diaspora', Annals of the American Thoracic Society, vol. 14, no. 1, pp. 1-7.en_ZA
dc.identifier.issn2329-6933 (print)
dc.identifier.issn2325-6621 (online)
dc.identifier.other10.1513/AnnalsATS.201606-481FR
dc.identifier.urihttp://hdl.handle.net/2263/58841
dc.language.isoenen_ZA
dc.publisherAmerican Thoracic Societyen_ZA
dc.rightsAmerican Thoracic Societyen_ZA
dc.subjectAmericasen_ZA
dc.subjectGenetic testingen_ZA
dc.subjectDNA sequencingen_ZA
dc.subjectNeonatal screeningen_ZA
dc.subjectTargeted pharmacotherapyen_ZA
dc.subjectCystic fibrosis (CF)en_ZA
dc.titleCystic fibrosis in the African diasporaen_ZA
dc.typePostprint Articleen_ZA

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