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.
Autosomal recessive inheritance pattern. A genetic mutation causes phenylketonuria. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process an amino acid called phenylalanine.A dangerous buildup of phenylalanine can develop when a person with PKU eats foods that are high in protein, such as milk, cheese, nuts or meat.utosomal recessive inheritance pattern. A genetic mutation causes phenylketonuria. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process an amino acid called phenylalanine.