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

Masekela, Refiloe; Zampoli, Marco; Westwood, Anthony; White, Debbie A; Green, Robin J.; Olorunju, Steve; Kwofie-Mensah, M.

doi:10.1016/j.jcf.2012.11.003

Cited by 11 publications

(16 citation statements)

References 17 publications

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“…protein energy malnutrition, HIV infection and tuberculosis, which affect the black population in SA to a considerable extent. [3] Another reason may be a high threshold for suspicion, as CF is not common in this population. One study in a Western country showed that features associated with late diagnosis were pancreatic insufficiency and certain genotypes.…”

Section: Discussionmentioning

confidence: 97%

“…These populations commonly present with failure to thrive and protein energy malnutrition. [3] Early diagnosis of CF prevents severe malnutrition and improves long-term growth. [4] In CF, nutrition and growth are determinants of lung health and, ultimately, survival.…”

mentioning

confidence: 99%

“…[1] At least 1 000 babies are expected to be born with CF in SA each year, but with a detection rate of only 46%, most are missed by conventional genetic mutation testing panels. [3] This not only reduces confirmation of CF in black patients but the use of genetic-based prognostic measures and treatment opportunities.…”

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confidence: 99%

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An analysis of outcomes in children with cystic fibrosis in a tertiary African centre: A retrospective study.

et al. 2016

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Background. Cystic fibrosis (CF) is a common genetic disorder in the white population that has become increasingly prevalent in populations of black African descent. Black African children with CF commonly present with nutritional and growth abnormalities. Objectives. To describe the characteristics of children followed up at the CF clinic at Inkosi Albert Luthuli Central Hospital, South Africa (SA). Methods. A retrospective chart review of clinical, laboratory and spirometric data of patients registered from January 2013 to January 2016. Results. Fifteen patients' data were reviewed. Their mean age was 132 months (range 26 -219) and 53% were male. Sixty percent of these children were white and 26.6% were black African. Collectively, the mean age at diagnosis was 45 months (range 0 -156), although this was higher in non-whites: 104 months (range 48 -156) v. whites 1.3 months (range 0 -3). The white group had better nutritional status with body mass index (BMI) of 17.2 kg/m 2 compared with 14.5 kg/m 2 for non-whites. Age at diagnosis had a negative correlation with weight-for-age z-score (-0.61, p<0.05) and body mass index (BMI) (-0.54, p<0.05). The mean predicted forced expiratory volume in 1 second (FEV 1 %p) was 70.0 (range 16.1 -120.2). FEV 1 %p had a positive correlation with weight z-score (0.83, p<0.001) and BMI (0.59, p<0.05). Five of the non-white patients had no mutations identified on the 30-mutation panel test. Conclusion. CF is diagnosed late in non-white children in SA, affecting their growth and lung function. A genetic panel that includes mutations specific to children of African descent is required.S Afr Respir J 2016;22(2):35-37.

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Section: Discussionmentioning

confidence: 97%

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confidence: 99%

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An analysis of outcomes in children with cystic fibrosis in a tertiary African centre: A retrospective study.

et al. 2016

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“…Twelve African countries had published a total of 26 reports of molecular investigations into the cause of CF-Morocco, [38][39][40] Algeria, [41][42][43] Tunisia, 40,41,[44][45][46] Libya, 47 Egypt, [48][49][50] Sudan, 18 Rwanda, 51 Senegal, 52 Cameroon, 52,53 Namibia, 54 Zimbabwe, 55 and South Africa, 2,37,[55][56][57][58][59][60] -for a total of 2,344 chromosomes screened. Only two publications met our inclusion criteria while also screening non-CF patients; 39,58 in these instances, we included only the data obtained from the CF patients described in these publications.…”

Section: Resultsmentioning

confidence: 99%

“…36 The estimated South African cost may reflect the impact of delayed diagnosis on treatment costs-CF patients are, on average, diagnosed at age 13 months. 37 Delayed diagnosis has been shown to have a negative impact on nutrition, growth, and lung function. CF patients who receive a delayed diagnosis also tend to be hospitalized more frequently, with more severe pulmonary exacerbations, increasing treatment costs.…”

Section: Cf Patient Survivalmentioning

confidence: 99%

Cystic fibrosis on the African continent

Stewart

Pepper

2016

Genetics in Medicine

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The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes

Marion

Gaitch

Martinez

et al. 2015

Journal of Cystic Fibrosis

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Examination of genotype-phenotype correlations along with functional evaluation of CFTR mutations may not be straightforward. The c.1865G>A, p.Gly622Asp (G622D), located at the NBD1 C terminus of the CFTR protein, was initially reported in patients with male infertility. However, the substitution of Gly622 by an aspartic acid in vitro would perturb the local structure or even affect the CFTR folding itself. In order to determine whether p.Gly622Asp affects the risk of developing a CFTR-Related disorder (CFTR-RD) or cystic fibrosis (CF), we analyzed the phenotype of subjects bearing the p.Gly622Asp mutation. We report molecular and clinical analyses in eleven unrelated patients with CF or CFTR-RD with compound heterozygosity for the p.Gly622Asp mutation. On the basis of the clinical features presented by the eleven patients, we postulate that the p.Gly622Asp might be associated with a wide spectrum of phenotypes including classical cystic fibrosis.

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

Abstract: 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.

Cited by 11 publications

References 17 publications

An analysis of outcomes in children with cystic fibrosis in a tertiary African centre: A retrospective study.

An analysis of outcomes in children with cystic fibrosis in a tertiary African centre: A retrospective study.

Cystic fibrosis on the African continent

The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes

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