Kusz-Zamelczyk et al. (2013) screened 195 infertile Polish men with nonobstructive azoospermia or severe oligozoospermia, who were known to be negative for azoospermia factor (AZF) microdeletions (see 415000), and identified heterozygous mutations in 4 unrelated azoospermic patients (608226.0001 ... Kusz-Zamelczyk et al. (2013) screened 195 infertile Polish men with nonobstructive azoospermia or severe oligozoospermia, who were known to be negative for azoospermia factor (AZF) microdeletions (see 415000), and identified heterozygous mutations in 4 unrelated azoospermic patients (608226.0001 and 608226.0002) and in 1 patient with severe oligoasthenoteratozoospermia (608226.0003). The mutations were not found in 400 fertile Polish men with at least 2 children, and all female carriers of NANOS1 mutations were fertile. Seminiferous tubule histology was available for 2 of the azoospermic patients and showed a Sertoli cell-only phenotype, with complete lack of germ cells. No histologic data were available for the patient with oligoasthenoteratozoospermia.