Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms ... Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Austin-Tse et al. (2013) reported 2 brothers and an unrelated girl, all of Ashkenazi Jewish descent, with primary ciliary dyskinesia. The patients had recurrent bronchitis, sinusitis, and/or otitis media, but no situs inversus. Fertility status could not be ... Austin-Tse et al. (2013) reported 2 brothers and an unrelated girl, all of Ashkenazi Jewish descent, with primary ciliary dyskinesia. The patients had recurrent bronchitis, sinusitis, and/or otitis media, but no situs inversus. Fertility status could not be ascertained. Cilia ultrastructure showed normal outer dynein arms, radial spokes, and central pairs, but there was a reduction in inner dynein arms and nexin links. Microtubule disorganization was also observed in 5% 15% of cilia cross sections, suggesting that the reduction in nexin links may lead to overall structural instability in a subset of cilia. Live imaging of patient nasal epithelial cilia showed a stiff, dyskinetic cilia waveform.
In 3 Ashkenazi Jewish patients, including 2 brothers, with primary ciliary dyskinesia-27, Austin-Tse et al. (2013) identified a homozygous truncating mutation in the CCDC65 gene (611088.0001). The patients were ascertained from a larger cohort of 295 individuals with ... In 3 Ashkenazi Jewish patients, including 2 brothers, with primary ciliary dyskinesia-27, Austin-Tse et al. (2013) identified a homozygous truncating mutation in the CCDC65 gene (611088.0001). The patients were ascertained from a larger cohort of 295 individuals with CILD.