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A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family
  1. *Laboratoire de Biochimie de l'ADN & EA 2943 UJF, CHU Grenoble 217X, 38043 Grenoble Cedex, France
  2. †Département de Pédiatrie, CHU Grenoble, Grenoble, France
  1. Dr Lunardi, jlunardi{at}

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Editor—Cystic fibrosis (CF), a common autosomal recessive disease in white populations, appears to be rare in the black African population and very few cases have been reported.1 However, the disease is probably underdiagnosed and its frequency is still undetermined. Among the few mutations reported to date in the black African population, a first study identified the presence of the 3120+1 G>A mutation in five out of eight CF chromosomes, a mutation previously described in black American CF patients.2 The three other mutations identified in that study were ΔF508, G1249E, and 3196del54. More recently, a systematic screening of the 3120+1G>A transition performed in different populations of African origin led to a carrier frequency estimation of one out of 91 in southern Africa and one out of 315 in central Africa, while no carrier was detected in a population of 109 subjects originating from west Africa.1 The frequency of CF in African populations may therefore be higher than generally estimated, as observed in southern Africa. It is likely that manyCFTR mutations remained undetected. We report here the identification of a new homozygous mutation in two children from a consanguineous Guinean family in association with an unusual phenotype.

The parents are first cousins and have had five children. The first child died after a dramatic episode of myocarditis. The second child, now aged 9, is healthy. The third child, a girl born at term, was admitted to our hospital because of failure to thrive and massive daily steatorrhoea with foul smelling stools, which had been noted by her mother for about six months. At 4 years of age, her weight was 12.2 kg (−2 SD) and her height 91 cm (−3.5 SD) with a poor nutritional status (BMI=14.7). She was then diagnosed as having CF on the …

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