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

Figure 1.

Figure 1

Identification of hemizygous variants of X-linked CFAP47 in men with asthenoteratozoospermia

(A) Pedigrees of four families affected by hemizygous CFAP47 variants (M1–M4). Black filled squares indicate the male individuals with asthenoteratozoospermia.

(B) Sanger sequencing confirmed hemizygous CFAP47 missense variants (M1–M3) in subjects T115 II-1, T176 II-1, and H025 II-1, respectively. The positions of variants are indicated by red arrows. WT, wild type.

(C) An approximately 3.2-Mb Xp21.1 deletion affecting CFAP47 (M4) in subject MA2603 II-1. This hemizygous deletion removed the entire CFAP47 gene copy.