Figure 2.

Identification of SPATC1L biallelic mutations in an infertile patient with acephalic spermatozoa syndrome. (a) Pedigree chart of the patient with SPATC1L mutations. The black arrow indicates the proband. (b) Sanger sequencing verified the biallelic mutations in the proband and his parents. The mutant sites are indicated by the red rectangles. (c) Locations of the biallelic mutations in the SPATC1L structure. (d) Affected amino acids on the protein structure of full-length SPATC1L. SPATC1L: spermatogenesis and centriole-associated 1 like.