Journal
GENETICS IN MEDICINE
Volume 18, Issue 7, Pages 653-662Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2015.157
Keywords
Africa; cystic fibrosis; molecular epidemiology
Categories
Funding
- University of Pretoria Vice-Chancellor's Postdoctoral Research Programme
- Institute for Cellular and Molecular Medicine at the University of Pretoria
- Genomics Research Institute (a University of Pretoria Institutional Research Theme)
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Cystic fibrosis (CF; OMIM 219700) is a life-shortening and costly autosomal recessive disease that has been most extensively studied in individuals of Caucasian descent. There is ample evidence, however, that it also affects other ethnicities. In Africa there have been several reports of CF, but there has been no concerted effort toward establishing the molecular epidemiology of this disease on the continent, which is the first step toward outlining a public health strategy to effectively address the needs of these patients. A literature search revealed reports from only 12 of the 54 African states on the molecular analysis of the mutations present in suspected CF patients, resulting in the identification of 79 mutations. Based on previous functional investigations, 39 of these cause CF, 10 are of varying clinical consequence, 4 have no associated evidence regarding whether they cause CF, 4 are synonymous, 5 are novel, and 21 are unique to Africa. We propose that CF be more thoroughly investigated on the continent to ensure that the public health needs of African CF patients-both those in Africa and those of African descent living elsewhere-are met.
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