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. 2021 Jan 19;108(2):309–323. doi: 10.1016/j.ajhg.2021.01.002

Figure 2.

Figure 2

Sperm morphology and ultrastructure analyses for men harboring hemizygous CFAP47 variants

(A) SEM analysis of the spermatozoa from a male control individual and men harboring hemizygous CFAP47 variants. (i) Normal morphology of the spermatozoon from a healthy control male. (ii–v) Most spermatozoa from men harboring hemizygous CFAP47 variants displayed typical MMAF phenotypes, including absent (ii), short (iii), coiled (iv), and bent flagella (v). The data of subject T115 II-1 were shown as an example. Scale bars: 5 μm.

(B) TEM analysis of the spermatozoa from a male control individual and men harboring hemizygous CFAP47 variants. Cross-sections of the midpiece (i) and principal piece (iv) of the sperm flagella from a male control individual displayed typical “9+2” microtubule structure: the central pair of microtubules (CP; red arrows) and nine pairs of peripheral microtubule doublets (DMTs; blue arrows) surrounded by nine outer dense fibers (ODFs; yellow arrows). The organized mitochondrial sheath and fibrous sheath are also observed. Cross-sections of the spermatozoa from men harboring hemizygous CFAP47 variants revealed various axonemal anomalies, including misarranged ODFs (ii, iii) and missing DMTs and/or the CP (v and vi). Scale bars: 200 nm.