Fig. 1.

Novel NPHP4 missense variant causes infertility with MMAF in Pakistani consanguineous family. A Consanguineous family with two asthenozoospermia patients presenting MMAF phenotype. Filled symbols, infertile individuals; clear symbols, fertile individuals; double horizontal lines, consanguineous marriage; cross line, deceased; tetragon, multiple kids. B (a, b) Pap staining of spermatozoa from control IV:5 showing normal sperm morphology. Spermatozoa from patient IV:3 presenting MMAF phenotype, showing (c) bent, (d) short, (e) coiled, (f) irregular, and (g) absent. Spermatozoa from patient IV:4 presenting MMAF phenotype showing (h) bent, (i) short, (j) coiled, (k) irregular, and (l) absent. Scale bars 10 µm. C Statistical analysis of anomalies of sperm flagella from patient IV:3, IV:4 and control IV:5. D Scanning electron microscopy analysis (a) sperm from control IV:5, showing normal morphology. Sperm pictures from patient IV:3 indicated MMAF phenotype, showing (b) absent, (c) coiled, (d) short, and (e) bent flagella