Fig. 2
From: Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation
Pedigrees of a family with inherited PMFBP1 mutations and protein expression of PMFBP1 in the spermatozoa from the patient. A Proband (Π-2) has a homozygous splice site mutation in PMFBP1. B Western blotting was performed to test the expression level of PMFBP1 in the control and patient sperm. Our findings revealed a complete absence of PMFBP1 protein expression in patient sperm, whereas control samples presented detectable levels of the PMFBP1 protein. C Sanger sequencing revealed a homozygous splice site mutation (NM_031293.2, c.2089-1G > T) in PMFBP1 in the patient