Table3_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，针对一位患有精子生成障碍的不育男性，描述了两种染色体异常：平衡性相互易位t(17;22)(p11.2;q11.2)以及10q23.31区域内的微小重复。鉴于这些基因（如ALKBH5、TOP3A、SPECC1L和CDC45）在睾丸组织中的高表达以及可能受到染色体易位的影响，故选取了位于易位断点上的二十个基因。同时，位于微小重复断点上的四个基因（包括FLJ37201、KIF20B、LINC00865和PANK1）导致基因剂量增加，象征着基因组的不平衡。据报道，这些基因与发育障碍/迟缓相关，可能是影响精子发生的风险因素。对这组关键基因进行了生物信息学分析，旨在探索男性患者在易位和微小重复背景下所遭遇的生殖过程中的致病机制。两种染色体异常的结合为配子发生和基因组稳定性带来了额外的风险，对男性生育能力显然有害。总体而言，本研究发现可能为遗传因素导致的男性不育的知识体系做出贡献。