Eustachian Tube Growth and Development: Anatomy/Function. Protocol Description. This study measures Eustachian tube function and facial growth over time in three groups of children: one with recurrent ear infections, one with chronic middle ear fluid, and one with little past history of otitis media.
Causes of Kartagener syndrome. Kartagener syndrome is caused by a mutation in the DNAI1 gene, which makes a cellular protein required for normal functioning cilia (cilia line the respiratory tract) and sperm motility.
In patients with hereditary hemochromatosis, Feder et al. (1996) identified 2 mutations in the HFE gene (C282Y; 613609.0001 and 613609.0002). The C282Y mutation was detected in 85% of all HFE chromosomes, indicating that in their population 83% of hemochromatosis cases are related to C282Y homozygosity.