Fig. 2.

Identification of novel mutations in NLRP5 and PATL2 in two unrelated primary infertile patients with primarily oocyte maturation abnormality and consequent early embryonic arrest. a Pedigree analysis of the family 1 with NLRP5 mutations and chromatograms of partial NLRP5 sequences in family members. b Pedigree analysis of the family 1 with PATL2 mutations and chromatograms of partial PATL2 sequences in family members. For a and b, a black circle with an arrow presents the proband. The individual with wild type is marked as a clear square or square. The double line is consanguinity. The chromatograms were the results of Sanger sequencing. The dashed lines indicate the positions of variants. c The positions of the mutations in the structure of NLRP5 and PATL2 protein. d Relative expression of NLRP5 mRNA in the peripheral blood leukocytes of the proband in family 1 (F1:II-2) and a normal control. The relative expression was measured by qRT-PCR and normalized to GAPDH. The bars show the mean of three independent experiments and error bars denote standard deviations. *, p < 0.001