Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.

"CONFLICT OF INTERESTS F. C. is a cofounder of pxlence."

"This study was supported by the Ghent University Special Research Fund (BOF15/GOA/011) to E. D. B., by Hercules Foundation AUGE/13/023 to E. D. B., by the Ghent University Hospital Innovation Fund NucleUZ (E. D. B. and F. C.), by the Swiss National Science Foundation (grant #176097 to C. R.), by the German Bundesministerium für Bildung und Forschung (BMBF) through the German Network for Mitochondrial Diseases (mitoNET, 01GM1113C and 01GM1906A to T. K.), by the Independent Research Fund Denmark (grant #8020‐00162B to P. F. and L. B. P.), and by the Carlsberg Foundation (#CF18‐0294 to L. B. P.). We gratefully acknowledge the families who participated in this study and Caroline Van Cauwenbergh and Maria E. Teves for their help. We would like to thank Dr. Francesc Garcia‐Gonzalo (Autonomous University of Madrid, Madrid, Spain) for the gift of puromycin‐sensitive hTERT‐RPE1 cells. G. A. is a PhD fellow (11B4818N; 11B4820N), and E. D. B. (1802215N; 1802220N) and B. P. L. (1803816N) are Senior Clinical Investigators of the Research Foundation—Flanders (FWO). E. D. B. and B. P. L. are members of ERN‐EYE."