CILIARY DYSKINESIA, PRIMARY, 16; CILD16

Alternative titles; symbols

• CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS

▼ Description
Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (Mazor et al., 2011).

For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).

▼ Clinical Features
Mazor et al. (2011) reported 3 patients, including 2 sibs, from 2 consanguineous Bedouin families with primary ciliary dyskinesia. The patients had classic features of the disorder, including neonatal respiratory distress, chronic sinopulmonary infection leading to severe morbidity, and complete situs inversus. Light microscopy showed absent or weakened ciliary movement, and electronic microscopy showed absence of outer ciliary dynein arms.

▼ Inheritance
The transmission pattern of CILD16 in the families reported by Mazor et al. (2011) was consistent with autosomal recessive inheritance.

▼ Molecular Genetics
By linkage analysis followed by candidate gene sequencing in 3 patients with primary ciliary dyskinesia, Mazor et al. (2011) identified a homozygous mutation in the DNAL1 gene (N150S; 610062.0001). Heterozygous mutation carriers were not clinically affected.