Skip to main content
. 2014 May 14;23(2):210–217. doi: 10.1038/ejhg.2014.79

Figure 2.

Figure 2

Irish Traveller family B. (a) Family B includes two affected siblings (IV:13 and IV:15) with PCD. TEM of nasal brushings from IV:13 showed nude epithelium, which may be a primary (ciliary aplasia) or secondary (infection) effect. DNA was available from the individuals denoted with a *. % GenHom; percentage of the autosomal genome located in a region of homozygosity >1 Mb in the affected children. (b) Sanger sequence validation of the 5 bp duplication (NM_021147.3:c.258_262dup) in exon 1 of CCNO. The GCCCG 5 bp duplication occurs immediately after two repeats of the same GCCCG sequence. The GCCCG sequence is repeated three times in succession in the patient (top), but only twice in the control sample (bottom). Each wild-type 5 bp sequence (repeat) is denoted by a dashed rectangle. The extra GCCCG sequence is marked with a red rectangle. The amino acid sequence is denoted using single letter database codes. The full colour version of this figure is available at European Journal of Human Genetics online.