Benjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C Koboldt, Georgios Kellaris, Lorraine Fievet, Guylène Le Meur, Dominique Caldari, Dominique Debray, Mathilde Nizon, Eirik Frengen, Sara J Bowne, Elizabeth L Cadena, Stephen P Daiger, Kinga M Bujakowska, Eric A Pierce, Michael Gorin, Nicholas Katsanis, Stéphane Bézieau, Simon M Petersen-Jones, Laurence M Occelli, Leslie A Lyons, Laurence Legeai-Mallet, Lori S Sullivan, Erica E Davis, Bertrand Isidor
Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exome sequencing, we identified heterozygous KIF3B variants in two unrelated families with hallmark ciliopathy phenotypes. In the first family, the proband presents with hepatic fibrosis, retinitis pigmentosa, and postaxial polydactyly; he harbors a de novo c.748G>C (p...
June 4, 2020: American Journal of Human Genetics