Qin et al. (2007) sequenced the NOBOX gene in 96 Caucasian women with premature ovarian failure and identified a heterozygous mutation (R355H; 610934.0001) in a 35-year-old woman who had menarche at age 11 years, entered menopause at age ... Qin et al. (2007) sequenced the NOBOX gene in 96 Caucasian women with premature ovarian failure and identified a heterozygous mutation (R355H; 610934.0001) in a 35-year-old woman who had menarche at age 11 years, entered menopause at age 32, and had an elevated FSH level. The patient had 2 healthy children and lacked overt somatic abnormalities. She was the only child of a woman who conceived her at 26 years of age and entered menopause at 42 years of age. The R355H mutation, which was not found in 278 Caucasian female controls, acted as a dominant negative and disrupted binding of wildtype NOBOX to DNA in electrophoretic mobility shift assays.