We previously discovered two heterozygous missense mutations of SEPT12, in which threonine was replaced with methionine at amino acid 89 (T89M; 1/160) and aspartate was replaced with asparagine at amino acid 197 (D197N; 1/160), from screening 160 male patients with infertility [31]. The gene discussed is SEPTIN12; the disease is Infertility.