Table2_Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia.DOCX

Two chromosomal abnormalities are described in an infertile man suffering from teratozoospermia: balanced reciprocal translocation t (17; 22) (p11.2; q11.2) and a microduplication in the region 10q23.31. Twenty genes located on the breakpoints of translocation (e.g., ALKBH5, TOP3A, SPECC1L, and CDC45) are selected due to their high expression in testicular tissues and might be influenced by chromosome translocation. Four genes located on the breakpoints of microduplication including FLJ37201, KIF20B, LINC00865, and PANK1 result in an increased dosage of genes, representing an imbalance in the genome. These genes have been reported to be associated with developmental disorders/retardation and might be risk factors affecting spermatogenesis. Bioinformatics analysis is carried out on these key genes, intending to find the pathogenic process of reproduction in the context of the translocation and microduplication encountered in the male patient. The combination of the two chromosomal abnormalities carries additional risks for gametogenesis and genomic instability and is apparently harmful to male fertility. Overall, our findings could contribute to the knowledge of male infertility caused by genetic factors.

在本研究中，针对一位患有精细胞形态异常的不育男性，描述了两种染色体异常：平衡互换易位t（17；22）（p11.2；q11.2）和10q23.31区域的微小重复。鉴于这些基因在睾丸组织中的高表达，且可能受染色体易位影响，因此选取了位于易位 breakpoints的20个基因（例如，ALKBH5、TOP3A、SPECC1L和CDC45）。此外，位于微小重复 breakpoints的4个基因（包括FLJ37201、KIF20B、LINC00865和PANK1）导致了基因剂量增加，象征着基因组的不平衡。这些基因已被报道与发育障碍/迟缓相关，可能是影响精原发生的风险因素。对这组关键基因进行了生物信息学分析，旨在探讨男性患者所遭遇的易位和微小重复背景下的生殖病理过程。两种染色体异常的组合对配子发生和基因组稳定性增加了额外风险，显然对男性生育力有不利影响。总之，本研究结果有助于丰富对由遗传因素引起的男性不育的认识。