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. Author manuscript; available in PMC: 2018 Feb 23.
Published in final edited form as: Genet Med. 2017 Aug 3;20(2):223–233. doi: 10.1038/gim.2017.94

Figure 2. Distribution and functional categories of RDVs found in affected individuals with Joubert syndrome and controls.

Figure 2

Distribution and RDV types by gene: (A) causal alleles in “solved” individuals with JBTS (two RDVs in the same JBTS gene), (B) “unsolved” individuals with JBTS, (C) NINDS controls (excluding the 4 individuals with two RDVs in one JBTS gene), and (D) heterozygous RDVs in “solved” affected individuals present in addition to the presumed causal alleles. Note the overrepresentation of CEP290 and KIF7 RDVs in controls (C), with a predominance of non-truncating RDVs; the mixed pattern of RDVs in unsolved samples (B), combining features from causal alleles (A) and from controls (C); the overrepresentation of RDVs in intra-flagellar transport-related genes (IFT172 and TTC21B) and the quasi absence of truncating additional RDVs as additional RDVs in “solved” affected individuals (D). RDV Rare Deleterious Variant, CNV Copy Number Variants, syn synonymous, intron intronic, trunc truncating, ms missense, htz heterozygous, JBTS Joubert syndrome.