In a study of a multiplex family, three mutations, c.G1336A (p.A446T), c.G1363C (p.A455P), and c.C1286T (p.A429V), were identified in the protein POC5 in patients with IS, thereby suggesting that POC5 is a causative gene of AIS [23]. Here, POC5 is linked to androgen insensitivity syndrome.