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. Author manuscript; available in PMC: 2017 Jan 1.
Published in final edited form as: J Med Genet. 2015 Oct 21;53(1):62–72. doi: 10.1136/jmedgenet-2015-103250

Figure 1. MRI findings and mutations in individuals with MKS1-related Joubert syndrome.

Figure 1

(A-L) All affected individuals had classic imaging findings of JS including cerebellar vermis hypoplasia, and thick, horizontally-oriented superior cerebellar peduncles. (A–B) is JBTS-10, (C–D) is UW031-3, (E–F) is UW091-3, (G–H) is UW092-3, (I–J) is UW093-3, (K–L) is JBTS-3504 (A, C, E, I, K) are T2-weighted axial views, (G) is a T1-weighted axial view, (B, D, F, J) are T1-weighted sagittal views, (H, L) are T2-weighted sagittal views; (M) MKS1 mutations in individuals with JS and MKS based on sequence NM_017777.3. p.G471Lfs*92 extends the protein by 4 amino acids; p.Thr485Argfs*107 extends the protein by 33 amino acids; p.R510Pfs*81 extends protein by 40 amino acids; MKS1 protein (559 aa). Black arrows, truncating mutations; Gray arrows, non-truncating mutations; Outline arrows, splice site mutations. CC, coiled-coil; B9, B9-domain.