Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). ... Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Panizzi et al. (2012) reported 10 patients from 6 families with primary ciliary dyskinesia. Five of the families were consanguineous and of Pakistani origin, and 1 was nonconsanguineous and of German origin. Four of the Pakistani families had ... Panizzi et al. (2012) reported 10 patients from 6 families with primary ciliary dyskinesia. Five of the families were consanguineous and of Pakistani origin, and 1 was nonconsanguineous and of German origin. Four of the Pakistani families had previously been reported by O'Callaghan et al. (2010) and resided in the U.K. The patients had classic features of the disorder, including recurrent upper and lower respiratory infections, sinusitis, bronchiectasis, and variable dextrocardia or situs inversus. Electron microscopy showed variable defects in the inner and outer dynein arms of cilia that differed even with a family. Videomicroscopy showed either complete cilia paralysis, reduced beat amplitude, or loss of beat coordination.
In 10 patients from 6 families with CILD17, Panizzi et al. (2012) identified 1 of 2 homozygous mutations in the CCDC103 gene: 383delG (614677.0001) or H154P (614677.0002).