In a study by Carlosama et al., whole-exome sequencing of a Colombian family member with POI revealed a splice-site mutation in the MSH4 gene that induced exon 17 skipping, leading to the elimination of the Walker B motif, which is highly conserved in the ATP-binding domain, thereby inactivating MSH4 and subsequently causing infertility [69]. This evidence concerns the gene MSH4 and Infertility.