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. 2023 Feb 15;110(3):516–530. doi: 10.1016/j.ajhg.2023.01.016

Figure 1.

Figure 1

Identification and functional validation of hemizygous variants in X-linked SSX1 in men with asthenoteratozoospermia

(A) Schematic illustration of the experimental design.

(B) Deleterious hemizygous SSX1 variants identified in six unrelated infertile men affected by asthenoteratozoospermia. The NCBI reference sequence number of SSX1 is GenBank: NM_005635.3. Variants with CADD values greater than 4 were considered to be deleterious. ‒, not applicable.

(C) Locations of the identified SSX1 variants in relation to critical functional domains of SSX1. KRAB, Kruppel-associated box; SSXRD, SSX repression domain.