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.