Fig. 1.

Phenotypes of oocytes and embryos from a normal individual and two infertile women with primarily oocyte maturation abnormality and consequent early embryonic arrest. a Morphology of an MII oocyte, a GV oocyte, and an embryo of day 3 from a normal individual. Left panel, an MII oocyte. Middle panel, a GV oocyte. Right panel, an embryo of day 3. b Morphology of the oocytes and embryos from the two affected women with biallelic NLRP5 and PATL2 mutations respectively. Left panels, part of the oocytes retrieved. Middle panels, the oocyte marked with a star on the left panel was magnified. Right panels, embryos of day 3. Upper panels, the proband from family 1 (F1:II-2), the second cycle of an IVF attempt. Lower panels, the proband from family 2 (F2:II-1). Scale bars in all panels: 50 μm. MII = metaphase II; GV = germinal vesicle