Fig. 1

A TSGA10 variant identified in a non-consanguineous Pakistani family with acephalic spermatozoa. A Pedigree of the Pakistani family with two infertile male patients, P1 (III: 1) and P2 (III: 2). Arrowheads point to the four individuals for which whole-exome sequencing (WES) was performed. Slashes denotes deceased family members. Squares represent males and circles represent females. Filled squares or circle represent male and female patient respectively. Clear symbols signify normal individuals. Diamonds represent multiple individuals without sex information. WT, wild-type. MT, (c.1112T > C, p. Leu371Pro). B Hematoxylin staining of the patient’s sperm. The sperm morphology was primarily acephalic. The semen smear slides were stained with the H&E staining, showing only the tails (ii-v). The red arrows indicate the acephalic spermatozoa. Scale bar: 10 μm, 5 μm respectively (C) Verification of the TSGA10 variant, c.1112T > C, in genomic DNA from all available family members