Fig. 1

Clinical and molecular evidence for Joubert syndrome type 10 diagnosis. a Magnetic resonance imaging of the proband, UDP-3331, reveals the hallmark “molar tooth sign” of the superior cerebellar peduncles (arrow). b Sanger sequencing of both the proband, UDP-3331, and his mother, UDP-4786, confirms an OFD1 single-nucleotide deletion (c.2656del) in the proband and maternal inheritance. c Analysis of mRNA transcripts from adult control cells (“WT”), UDP-3331, and UDP-3331 + OFD1 rescue shows reduced mRNA levels in the proband. Error bars represent standard error of four replicates; data are normalized to GAPDH expression and plotted relative to WT OFD1 expression levels. Asterisk indicates p < 0.001 for two-tailed, heteroscedastic Student’s t test. d Western blot analysis of OFD1 levels in UDP-3331, UDP-3331 + OFD1 and adult WT primary fibroblast lines; one representative blot with OFD1 and α-tubulin is shown in the top panels; average of 3 replicate blots with independent lysates is shown in the lower panel. OFD1 levels are normalized to α-tubulin and plotted relative to WT OFD1 protein levels