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.
Cockayne syndrome-caused by mutations in the ERCC6 gene. More than 60 ERCC6 gene mutations that cause Cockayne syndrome have been identified. Many of these mutations lead to the production of an abnormally short version of the CSB protein that cannot function properly.ore than 60 ERCC6 gene mutations that cause Cockayne syndrome have been identified. Many of these mutations lead to the production of an abnormally short version of the CSB protein that cannot function properly.