Table 2.

Proposed gene mutations on Xp associated with primary ovarian insufficiency

Xp11, USP9X (ubiquitin-specific protease)	Required for eye development and oogenesis
Xp22.1-21.3, ZFX (zinc finger X)	DNA binding protein, animal models deficient have diminished germ cell numbers
Xp11.2, BMP15 (bone morphogenetic protein)	Expressed in gonads, involved in folliculogenesis and embryonic development
Xp22, SHOX (short stature homeobox)	Located on pseudoautosomal region; mutations/deletions associated with short stature

Note: Data from Simpson et al.⁷