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).
Omran et al. (2000) studied a large consanguineous family of Arabic origin with primary ciliary dyskinesia. Direct examination of the respiratory cilia revealed ciliary akinesia, and electron microscopy of cilia showed absence of the outer dynein arms. Two ... Omran et al. (2000) studied a large consanguineous family of Arabic origin with primary ciliary dyskinesia. Direct examination of the respiratory cilia revealed ciliary akinesia, and electron microscopy of cilia showed absence of the outer dynein arms. Two of 4 affected individuals exhibited situs inversus, typical for Kartagener syndrome, due to randomization of the left/right body axis.
Olbrich et al. (2002) found 7 individuals from 6 families with primary ciliary dyskinesia or Kartagener syndrome who had mutations in the DNAH5 gene (see, e.g., 603335.0001-603335.0003). In 5 of these families there were affected individuals with and ... Olbrich et al. (2002) found 7 individuals from 6 families with primary ciliary dyskinesia or Kartagener syndrome who had mutations in the DNAH5 gene (see, e.g., 603335.0001-603335.0003). In 5 of these families there were affected individuals with and without situs inversus within the same sibship, indicating randomization of left-right axis asymmetry in individuals carrying DNAH5 mutations. Failly et al. (2009) identified 18 novel and 6 previously described DNAH5 mutations in 16 (18%) of 89 unrelated individuals with primary ciliary dyskinesia, including 13 (15%) individuals in whom DNAH5 mutations were identified on both alleles. These DNAH5 mutations were mainly associated with outer and inner dyneins arm ultrastructural defects (50%). In 2 sibs and an unrelated patient with CILD3, Knowles et al. (2013) identified compound heterozygous mutations in the DNAH5 gene (603335.0006-603335.0009). The mutations were identified by exome sequencing. Features included sinusitis, otitis, bronchiectasis, and decreased nasal nitric oxide. Two had situs inversus. Respiratory epithelial cells showed defects in the outer dynein arms of cilia.