Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients ... Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).
Schwabe et al. (2008) reported a German family in which 6 sibs had primary ciliary dyskinesia, 1 of whom also had situs inversus totalis, consistent with Kartagener syndrome. Clinical features included chronic respiratory infections, chronic sinusitis, recurrent bronchitis, ... Schwabe et al. (2008) reported a German family in which 6 sibs had primary ciliary dyskinesia, 1 of whom also had situs inversus totalis, consistent with Kartagener syndrome. Clinical features included chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood. Three patients had recurrent otitis media. Pulmonary examination showed normal lung function with restrictive or obstructive changes during exacerbation. Three individuals had bronchiectasis, and 5 had chronic mucosal inflammatory changes with purulent hypersecretions and the presence of bacteria. One affected male fathered a child without use of medical assistance, suggesting normal fertility. Analysis of respiratory cilia from 5 patients showed severely altered beating patterns, with nonflexible and hyperkinetic beating of axonemes only detectable in slow-motion analysis of video microscopy. Electron microscopy showed normal axonemal ultrastructure. Lucas et al. (2012) reported 2 unrelated patients with CILD7. Both had neonatal respiratory symptoms, chronic cough, rhinitis, and otitis. Electron microscopy showed normal ciliary ultrastructure in both patients. However, functional studies showed that 1 patient had rapid, erratic, dyskinetic ciliary beating, whereas the other had static cilia with slow activity.
In a patient with primary ciliary dyskinesia and situs inversus totalis originally reported by Pan et al. (1998), Bartoloni et al. (2002) identified a homozygous mutation in the DNAH11 gene (603339.0001).
In affected members of a ... In a patient with primary ciliary dyskinesia and situs inversus totalis originally reported by Pan et al. (1998), Bartoloni et al. (2002) identified a homozygous mutation in the DNAH11 gene (603339.0001). In affected members of a German family with primary ciliary dyskinesia, Schwabe et al. (2008) identified compound heterozygosity for 2 mutations in the DNAH11 gene (603339.0002; 603339.0003). One of the patients had Kartagener syndrome. In a patient with CILD7, Lucas et al. (2012) identified compound heterozygous mutations in the DNAH11 gene (603339.0004 and 603339.0005). Another unrelated patient had a heterozygous truncating mutation in the CILD7 gene (603339.0006), but a second pathogenic mutation was not identified.