title: Phenotypic expression of the 3120+1G>A mutation in non-Caucasian children with cystic fibrosis in South Africa.
abstract: BACKGROUND
  Cystic fibrosis (CF) is the most common genetic disorder in Caucasians. Presentation of CF in non-Caucasians is less well studied.
  
  
  OBJECTIVE
  This audit was undertaken to determine the phenotypic expression of the 3120+1G>A mutation in black and mixed race children in South Africa.
  
  
  METHODS
  A multi-centre retrospective chart review of clinical, laboratory and spirometry data of non-Caucasian CF patients in four CF centres in South Africa was collected. Data was collected at diagnosis and after a five-year follow-up period. Ethical approval was granted for the study.
  
  
  RESULTS
  A total of 30 participants were enrolled of whom 14 (47%) were homozygous and 16 (53%) heterozygous for the 3120+1G>A mutation. The mean age of diagnosis was 13 months. Twenty-four (80%) patients had malnutrition (mean weight z-score -3.6) or failure to thrive (77%) at presentation. Twenty (67%) presented with non-specific abdominal symptoms, whilst fifteen (50%) had recurrent respiratory tract infections. Pseudomonas aeruginosa was detected at a mean age of 21 months. The mean FEV1 was 73% predicted (95% CI 54.0-91.1) at study entry and 68% predicted (95% CI 49.74-87.06) at follow-up.
  
  
  CONCLUSIONS
  Failure to thrive and a diagnosis of protein energy malnutrition (kwashiorkor) are the common presenting features of CF in children with the 3120+1G>A mutation. Meconium ileus is a rare presenting feature of CF in black and mixed race children with this deletion in South Africa.
authors.affiliation: Department of Paediatrics and Child Health, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa. refiloe.masekela@up.ac.za
authors.forename: R
authors.initials: R
authors.lastname: Masekela
authors.forename: M
authors.initials: M
authors.lastname: Zampoli
authors.forename: A T
authors.initials: AT
authors.lastname: Westwood
authors.forename: D A
authors.initials: DA
authors.lastname: White
authors.forename: R J
authors.initials: RJ
authors.lastname: Green
authors.forename: S
authors.initials: S
authors.lastname: Olorunju
authors.forename: M
authors.initials: M
authors.lastname: Kwofie-Mensah
mesh_terms: D044383:Black People / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D013019:South Africa
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator