The first studies associating DIAPH2, located on chromosome X, with a human phenotype reported the presence of chromosomal rearrangements (translocations, deletions, and duplications, listed in Table S2) involving this gene in patients with premature ovarian failure (POF2A, MIM: 300511), a dominant form of ovarian insufficiency characterized by secondary amenhorrea and premature menopause [57,58,59,60,61]. This evidence concerns the gene DIAPH2 and ovarian dysfunction.