Fig. 3: Comparison of variants per gene and variant type in Joubert syndrome-associated genes in a patient cohort compared to healthy individuals (this cohort). | European Journal of Human Genetics

Fig. 3: Comparison of variants per gene and variant type in Joubert syndrome-associated genes in a patient cohort compared to healthy individuals (this cohort).

From: Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies

Fig. 3

Bar graph showing all Joubert-associated genes in which variants discussed here (reportable or “strong” VUS) were found in this healthy cohort. The percentage of variants in each gene (over the total number of variants in each cohort) is shown for both cohorts: for each gene, the left bar, consisting of light red (truncating) and light blue (missense/nc/inframe variants) variants, shows results from a large Joubert-patient cohort [25] as a comparison, while the right bar (darker red for truncating, darker blue for reportable missense/nc/inframe and grey for “strong” VUS) shows the results from the current study in healthy individuals. Note the substantial differences for instance for CEP290, where affected individuals have mostly truncating variants, while healthy individuals in this cohort have predominantly missense variants, or for IFT172, where pathogenic alleles rarely cause JBTS while many “strong” VUS were identified in this healthy cohort. Such a difference is not present for all genes (for example variants in INPP5E show a similar distribution between affected and healthy individuals).

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