Cilia dysfunction may be clinically linked to AIS, since variants in ciliary genes, especially involved in cellular mechanotransduction (LBX1: spinal cord differentiation, somatosensory signal transduction, POC5: centrin and inversin interaction in the centrioles, GRP126: axons myelinization), were found in AIS patients20,21,40,41. Here, LBX1 is linked to androgen insensitivity syndrome.