3.1 Identification of a recurrent CFAP47 missense variant in two unrelated infertile men
Two asthenoteratozoospermia patients were recruited for our study. A recurrent missense mutation of c.1414G>A [p.V472M] inCFAP47 were identified in these patients by WES (Figure 1a). Then, Sanger sequencing confirmed this missense mutation in patients and unaffected parents, implying that CFAP47 mutation was inherited from their mothers (Figure 1a). Moreover, this CFAP47 mutation has an extremely low allele frequency in public databases (Table 1) and was predicted to be damaged through the prediction of SIFT, PolyPhen-2, and M-CAP (Table 1). Subsequent sequence alignment analysis found that this amino acid was conserved in multiple species (Figure 1b). These findings indicate that this hemizygous mutation in CFAP47 might be the potential pathogenic factor for the infertility phenotype of patients.