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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 3. Investigating “tri-allelism” in Joubert syndrome (JBTS).

Figure 3

(A) Proposed “tri-allelic” inheritance: bi-allelic rare deleterious variants (RDVs) in a first gene AND one additional heterozygous RDV in a second gene are required to cause the disorder (represented by the characteristic Molar Tooth Sign (MTS) of JBTS). (B) In this JBTS cohort, no unaffected family members were identified carrying the same two presumed causal RDVs in one JBTS gene as their affected relative.