Lynch et al. (2007) reported the case of a 21-year-old woman with primary ovarian failure, and her levels of serum FSH and LH indicated that she was postmenopausal; the homozygous mutation of SETX c.6292 C>T (p. Arg2098*) was then confirmed in the patient (Lynch et al., 2007). Here, SETX is linked to primary ovarian failure.