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.
For discussion of the gln3066-to-ter (Q3066X) mutation in the BRCA2 gene that was found in compound heterozygous state in a patient with Fanconi anemia of complementation group D1 (FANCD1; 605724) by Alter et al.y sequencing the putative BRCA2 gene in individuals with early-onset breast cancer who shared only the haplotype of 13q microsatellite markers that segregated with the disease (BROVCA2; 612555), Wooster et al. (1995) found a TG deletion (600185.0003) and a TT deletion in families CRC B196 and CRC B211, respectively.