Figure 1. Identification of a novel hemizygous variant of X-linked CFAP47 in asthenoteratozoospermia patients.
(a) Pedigree structure of two families affected asthenoteratozoospermia. The probands are indicated by black arrows. Sanger sequencing confirmed a hemizygous CFAP47 missense variant in the two families. The position of the variant is indicated by red arrows. (b) CFAP47 protein structure, localization of variants in the genome, and conservation of mutant amino acids in different species. The red arrow indicates the position of the mutation in our study. The black arrow indicates the mutations that have been reported. The residue V472 is conserved across species.