Ciliary Dyskinesia, Primary, 8
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).
MappingBy genomewide analysis of 52 Polish families in which at least 1 member had Kartagener syndrome, Geremek et al. (2006) found linkage to a 3.5-cM (2.82 Mb) region on chromosome 15q between markers D15S973 and D15S1037. The initial pairwise maximum lod score for all families was 4.34 at D15S154 on 15q24-q25. Further analysis showed that 31 families were linked to this region, with the highest pairwise lod score for this subset being 5.75 at D15S1005. Geremek et al. (2006) concluded that this locus may be responsible for up to 60% of Kartagener syndrome families. No common haplotypes were identified. Linkage studies of 18 families with only ciliary dyskinesia and without situs inversus showed no linkage to the locus at 15q.
In the same 31 families with Kartagener syndrome linked to 15q, Geremek et al. (2008) refined the candidate region to a 1.8-Mb segment containing 18 known genes. The coding regions of these genes and 3 neighboring genes were subjected to sequence analysis in 7 probands. Although 60 SNP variants, 35 of which resided in mRNA coding sequences, were identified, none of the variations alone could explain the occurrence of the disease.