CPLANE1 and polydactyly: Bachmann-Gagescu et al. sequenced 27 JS-related genes in 375 families with JS in 2015 and identified causative variants in 62% of families, in which C5orf42 variants account for 6-9% of JS and were highly correlated with polydactyly (OR 2.7, CI 1.2-5.9; p=0.01) [27].