Research Article

Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

Table 1

Polymorphic variants in NANOS3 identified in POI patients and controls.

Genotype frequency (%)
VariantdbSNP idPatients with POIControls
Wild-typeHeterozygoteHomozygoteWild typeHeterozygoteHomozygote

c.-23C>T (5′ UTR)rs8977906034.15.972.525.71.8
c.353A>G (exon 1, synonymous)rs201616350.6409.47027.42.6