Phenotypic expression of the 3120+1G>A mutation in non-Caucasian children with cystic fibrosis in South Africa

Journal of Cystic Fibrosis

Volumn 12, Issue 4, 2013, Pages 363-366

  Masekela, R ^a   Zampoli, M ^b   Westwood, A T ^b   White, D A ^c   Green, R J ^a   Olorunju, S ^d   Kwofie Mensah, M ^a  

^a UNIVERSITY OF PRETORIA   (South Africa)

^b RED CROSS WAR MEMORIAL CHILDREN S HOSPITAL   (South Africa)

^c UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^d SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

Author keywords

Failure to thrive; Growth; Lung function; Meconium ileus; Pseudomonas aeruginosa

Indexed keywords

ADOLESCENT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; MEDICAL RECORD REVIEW; MULTICENTER STUDY (TOPIC); PHENOTYPE; PSEUDOMONAS AERUGINOSA; RETROSPECTIVE STUDY; SOUTH AFRICA;

AFRICAN CONTINENTAL ANCESTRY GROUP; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; SOUTH AFRICA;

EID: 84878346760     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2012.11.003     Document Type: Article

References (21)

1. Rommens J.M., Inannuzzzi M.C., Kerem B.S., Drumm M.L., Melmer G., Dean M., et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989, 245:1059-1065.
2. Riordan J.R., Rommens J.M., Kerem B.S., Alon N., Rozmahel R., Grzelczak Z., et al. Identification of the cystic fibrosis gene: cloning and characterization of the complimentary DNA. Science 1989, 245:1066-1073.
3. Kerem B.S., Rommens J.M., Buchanan J.A., Markiewicz D., Cox T.K., Chakravarti A., et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989, 254:1073-1080.
4. Ashlock M.A., Olson E.R. Therapeutics development for cystic fibrosis: successful model for a multisystem genetic disease. Annu Rev Med 2011, 62:107-125.
5. Goldman A., Labrum R., Claustres M., et al. The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001, 59:37-41.
6. Macek M., Davis C.L., Hamosh A., Anvret M., Cutting G.R. The identification of a novel CFTR mutation: 3120+1G>A. The Cystic Fibrosis Genetic Analysis Consortium 1993, 56:1-2.
7. Stern R.C., Doershuk C.F., Boat T.F., Tucker A.S., Primiano F.P., Matthews L.W. Course of cystic fibrosis in black patients. J Pediatr 1976, 89:412-417.
8. Prapphal N., Fitzpatrick S.B., Getson P., Fink R., O'Donnell R., Chaney H. Cystic fibrosis in blacks in Washington, DC: fifteen years' experience. J Natl Med Assoc 1989, 81:263-267.
9. McColley S.A., Rosenstein B.J., Cutting G.R. Differences in expression of cystic fibrosis in blacks and whites. Am J Dis Child 1991, 145:94-97.
10. Mutesa L., Bours V. Diagnostic challenges of cystic fibrosis in patients of African origin. J Trop Pediatr 2009, 55:281-286.
11. Padoa C., Goldman A., Jenkins T., Ramsay M. Cystic fibrosis carrier frequencies in populations of African origin. J Med Genet 1999, 36:41-44.
12. Westwood T., Henderson B., Ramsay M. Diagnosing cystic fibrosis in South Africa. S Afr Med J 2006, 94:304-306.
13. [Accessed 10 June 2011]. http://http//:www.who.int/childgrowth/standards/en/.
14. Lee T.W.R., Brownlee K.G., Conway S.P., Denton M., Littlewood J.M. Evaluation of a new definition for chronic Pseudomonas aeruginosa infection in cystic fibrosis patients. J Cyst Fibros 2003, 2:29-34.
15. Hamosh A., FitzSimmons S.C., Macek M., Knowles M.R., Rosenstein B.J., Cutting G.R. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 1998, 255-259.
16. De Boeck K., Wilshancski M., Castellani C., Taylor C., Cuppens H., Dodge J. Cystic fibrosis terminology and diagnostic algorithms. Thorax 2006, 61:627-635.
17. Westwood T., Brown R. Cystic fibrosis in black patients: Western Cape experiences. S Afr Med J 2006, 96:288-289.
18. Westwood T. The epidemiology of cystic fibrosis in the Western Cape Province. S Afr J Child Health 2007, 1:78-81.
19. Steinkamp G., Wiedemann B. Relationship between nutritional status and lung function in cystic fibrosis: cross sectional and longitudinal analysis from the German CF Quality Assurance (CFQA) project. Thorax 2002, 57:596-601.
20. Vandenbranden S.L., McMullen A., Schechter M.S., Pasta D.J., Micahelis R.L., Kostan M.W., et al. Lung function decline from adolescence to young adulthood in cystic fibrosis. Pediatr Pulmonol 2012, 47:135-143.
21. Morrow B.M., Argent A.C., Zar H.J., Westwood A.T.R. Improvements in lung function of a pediatric cystic fibrosis population in a developing country. J Pediatr (Rio J) 2008, 84:403-409.