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.
Mutations on two other genes can cause some of the atypical variants of Rett syndrome: Congenital Rett syndrome (Rolando variant) is associated with mutations of the FOXG1 gene, and CDKL5 mutations are linked with the early-onset, or Hanefeld, variant. 6,7 Males affected by these types of mutations can survive infancy.