WES in AIS cohort indicated that rare variants in FBN1/2, musculoskeletal collagen genes, including 14 collagen genes, and cilia-associated genes, were enriched in AIS patients (Buchan et al., 2014; Haller et al., 2016; Baschal et al., 2018). The gene discussed is FBN1; the disease is androgen insensitivity syndrome.