Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan 250012, China.
Asian J Androl. 2021 Sep-Oct;23(5):510-515. doi: 10.4103/aja.aja_8_21.
There are many unknown genetic factors that lead to infertility in nonobstructive azoospermia men. Here, we performed whole-exome sequencing in blood samples obtained from 40 azoospermia patients with meiotic arrest and found a novel c.151_154del (p.D51fs) frame-shift mutation in exon 3 of the testis expressed 11 (TEX11) gene in one patient. Sanger sequencing analysis of the patient and 288 fertile men was performed to validate the mutation. Immunohistochemical analysis showed TEX11 expression in late-pachytene spermatocytes and in round spermatids in fertile human testes. In contrast, testes of the patient with TEX11 mutation underwent meiotic arrest and lacked TEX11 expression. Western blotting of human embryonic kidney (HEK293) cells transfected with a vector for the p.D51fs TEX11 variant detected no TEX11 expression. In conclusion, we identified a novel frame-shift mutation in the TEX11 gene in an azoospermia patient, emphasizing that this gene should be included in genetic screening panels for the clinical evaluation of azoospermia patients.
有许多未知的遗传因素导致非梗阻性无精子症男性不育。在这里，我们对 40 名减数分裂阻滞的无精子症患者的血液样本进行了全外显子组测序，在其中一名患者的 TEX11 基因第 3 外显子中发现了一个新的 c.151_154del（p.D51fs）移码突变。对患者和 288 名生育男性进行了 Sanger 测序分析，以验证该突变。免疫组织化学分析显示，TEX11 在生育男性的精母细胞晚期和圆形精子中表达。相比之下，携带 TEX11 突变的患者的睾丸经历减数分裂阻滞，并且缺乏 TEX11 表达。用携带 p.D51fs TEX11 变体的载体转染的人胚肾 (HEK293) 细胞的 Western blot 检测不到 TEX11 表达。总之，我们在一名无精子症患者中鉴定出 TEX11 基因的一个新的移码突变，强调该基因应包含在无精子症患者临床评估的遗传筛查面板中。
