Figure 1: Two siblings with asthenoteratozoospermia in a Pakistani consanguineous family. (a) Two affected individuals (IV:1 and IV:7) with male infertility are the offspring of first-cousin marriage. Diamonds indicate a group of multiple progeny whose sex information was not available. Deceased family members are indicated with slash symbols. (b) Representative images of spermatozoa from fertile control and affected individuals (IV:1 and IV:7). Spermatozoa from the patients showed severe mid-piece and tail abnormalities. Scale bars = 50 μm. (c) Representative spermatozoa images of scanning electron microscopy (SEM) from a fertile control and the affected individuals (IV:1 and IV:7). Spermatozoa from the patients showed swelled mid-pieces and coiled tails. Scale bars=10 μm. WES: whole-exome sequencing.