The TMEM231 gene, identified in 2013 as a causative gene for MKS, also contributes to JBTS which is another ciliopathy characterised by oculomotor apraxia, abnormal breathing, ataxia, and variable psychomotor developmental delay (Srour et al., 2012; Shaheen et al., 2013; Wang et al., 2021). This evidence concerns the gene TMEM231 and Meckel syndrome, type 1.