Vilboux et al. identified the causative genes in 94% of the families (81/86) with JS using a targeted panel of 27 JS-associated genes followed by whole-exome sequencing (WES) in 2017, and C5orf42 variants were the most common variants in the JS patients with polydactyly [29]. The gene discussed is CPLANE1; the disease is polydactyly.