PMC9204271_01
Morphology sperm images of the case. (A,C) The black arrow indicates a rounded acrosomeless head. The white arrow indicates that the pyriform sperm head and midpiece comments are thick. (B,D) The black arrow indicates round without acrosome. The white arrow indicates a pyriform sperm head, and less than 40% of the head is occupied by the acrosome.
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F1
Conspicuous head-shaped and acrosomal anomalies of sperm were observed (Figure 1).
Cytogenetic images of chromosome karyotype (from peripheral blood sample): 46, XY, t (17; 22) (p11.2; q11.2).
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F2
Cytogenetic analyses (Giemsa banding) showed the karyotype of the patient to be 46, XY, t (17; 22) (p11.2; q11.2) (Figure 2) and that of his wife to be 46, XX.
Copy number variation (CNV) analysis was perform on the case. A microduplication 10q23.31 (chr10:91371499-91596485) had been shown, affecting genes of FLJ37201, KIF20B, LINC00865, and PANK1.
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F3
However, this microduplication has not been mentioned in a public database previously (Figure 3).
Network of genes located on the breakpoints of translocation and microduplication (available from GeneMANIA). Circles with a gray diagonal are the 21 genes in breakpoints; black circles are the 20 related genes; 3 genes (FLJ37201, LINC00865 and CCDC144NL-AS1) are found no interaction with these genes. Genetic linkages are drawn with different colors of lines, and the functions of these genes are present in color within circles. It has shown that genes of KIF20B, TOP3A, LLGL1 PRPSAP2, and CDC45 were closely associated with TOP2A expression, which has been found to be associated with the defective morphology of sperm heads.
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F4
The co-expression, genetic interactions, physical interactions, shared protein domains, and co-localization of these genes (with gray diagonal) are shown in Figure 4. Simultaneously, the functions of these genes were involved in cell cycle, regulation of chromosome organization, and the synthesis and replication of DNA. The cross-interaction of these genes reveals that they may contribute to spermatogenesis as a group.