Fig. 4: Molecular effects of the CEP83 variant. | npj Genomic Medicine

Fig. 4: Molecular effects of the CEP83 variant.

From: A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant

Fig. 4

A Schematic presentation of the effect of the CEP83 donor-gain variant on Pre-mRNA splicing; the variant marked by black arrow. B Agarose gel electrophoresis (2% agarose) of PCR-amplified products from cDNA derived from fibroblasts of affected homozygous (HOM) individuals and wildtype (WT) controls, demonstrating full transcript 259 (wild-type)/260 (mutant) bp amplicon in contrast with 136 bp mutant amplicon due to alternative splicing of exon 1. C Sanger sequencing of PCR amplicons from cDNA of fibroblasts of affected individuals demonstrate both full and alternative splicing transcripts. D Illustration of primer design to RT-qPCR and relative quantification of CEP83 expression RT-qPCR in patient fibroblasts compared to the wildtype controls; 2-tailed Mann-Whitney test (*p < 0.05, **p < 0.005, and ***p < 0.0005, by Mann-Whitney test). E Western blot analysis of CEP83 protein in patient fibroblasts compared to wildtype controls. CEP83 protein levels given relative to Actin levels. This figure was created in BioRender. Jean, M. (2025) https://BioRender.com/8r0ggrv.

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