CYSTIC-FIBROSIS MUTATIONS AND IMMOTILE CILIA SYNDROME

The immotile cilia syndrome (ICS) presents with autosomal recessive in heritance and is a chronic respiratory disease supposed to be caused b y different genetic determinants. The hypothesis that cystic fibrosis (CF) heterozygotes may have a predisposition to develop bronchial or r espiratory diseases other than CF prompted us to look for CF mutations in patients with ICS. Five patients, as well as the parents and two h ealthy brothers of one patient were tested for 12 CF mutations, for th e polymorphic GATT repeat in intron 6a and for the CF gene flanking ma rkers XV-2c, KM19, MP6d-9, J3.11. None of the 12 mutations at the CF l ocus have been detected in the ICS patients and no linkage was found b etween ICS and the polymorphic markers. Thus, based on our data, ICS a nd CF seem to be two different clinical entities.