Mitchison et al. (2012) reported 3 unrelated consanguineous families with primary ciliary dyskinesia-2, 2 of whom had been reported by Meeks et al. (2000). Clinical features included otitis media, sinusitis, chronic cough, and recurrent respiratory infections, often resulting ... Mitchison et al. (2012) reported 3 unrelated consanguineous families with primary ciliary dyskinesia-2, 2 of whom had been reported by Meeks et al. (2000). Clinical features included otitis media, sinusitis, chronic cough, and recurrent respiratory infections, often resulting in bronchiectasis. Some patients had nasal polyps, infertility, and hearing loss. About half of patients had situs inversus. The cilia were demonstrated to be immotile in all patients. Immunohistochemical and electron microscopic studies of affected individuals in 1 family showed ciliary defects of the inner and outer dynein arms, with loss of the outer dynein components DNAH5 (603335), DNAH9 (603330), and DNAH12 (603340), as well as loss of the inner dynein component DNALI1 (602135).
In affected members of 3 unrelated consanguineous families with primary ciliary dyskinesia-2, Mitchison et al. (2012) identified 3 different homozygous mutations in the DNAAF3 gene (614566.0001-614566.0003). Two of the families had been reported by Meeks et al. (2000). ... In affected members of 3 unrelated consanguineous families with primary ciliary dyskinesia-2, Mitchison et al. (2012) identified 3 different homozygous mutations in the DNAAF3 gene (614566.0001-614566.0003). Two of the families had been reported by Meeks et al. (2000). The results suggested that DNAAF3 is key for assembly of the outer and inner dynein arms along the entire length of the axoneme.