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.
The FMR1 gene provides instructions for making a protein called fragile X mental retardation 1 protein, or FMRP. This protein is present in many tissues, including the brain, testes, and ovaries.ragile X syndrome-caused by mutations in the FMR1 gene. Almost all cases of fragile X syndrome are caused by an expansion of the CGG trinucleotide repeat in the FMR1 gene. In these cases, CGG is abnormally repeated from 200 to more than 1,000 times, which makes this region of the gene unstable.