Short Communication: Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G ← T and the 711 + 1G ← T mutations

We describe a family in which three sibs are compound heterozygotes for two rather rare CFTR splice-site mutations, the 621 + 1G-->T and the 711 + 1G-->T mutations. Little phenotypic variation was observed between sibs, of whom two are deceased. Their disease is characterized by pancreatic insufficiency, a severe pulmonary involvement and major growth retardation.