The combination of whole-exome sequencing and targeted sequencing by AmpliSeq using a targeted Amplicon chip followed by a confirmation with Sanger sequencing revealed that 13% (p ˂ 0.0001, Fisher’s exact test) of AIS patients with or without family history were carrying one of the three variants of POC5, previously identified as the first causative gene [13]. Here, POC5 is linked to androgen insensitivity syndrome.