Male infertility is an increasing medical concern worldwide. In most cases, genetic factors are considered as the main cause of the disease. Globozoospermia (MIM102530) (also known as round-headed sperm) is a rare and severe malformed spermatospermia caused by acrosome deficiency or severe malformation. A subset of genetic mutations, such as DNAH6, SPATA16, DPY19L2, PICK1, and CCIN related to globozoospermia, have been reported in the past few years. The DPY19L2 mutation is commonly found in patients with globozoospermia. Herein, a 180-kbp homozygote deletion at 12q14.2 (g.63950001–64130000) was identified by copy number variation sequencing (CNVseq) in a patient with a globozoospermia, including the complete deletion of DPY19L2. A 27-year-old patient at the First Affiliated Hospital of Xiamen University was diagnosed with infertility because, despite normal sexual activity for 4 years, his wife did not conceive. The patient was in good health with no obvious discomfort, no history of adverse chemical exposure, and no vices, such as smoking and drinking. The physical examination revealed normal genital development. However, semen tests showed a normal sperm count of 0% and the morphology was the round head. Sperm cytology showed that acrosomal enzyme was lower than normal. Reproductive hormones were in the normal range. B ultrasound did not show any abnormal seminal vesicle, prostate, bilateral testis, epididymis, and spermatic veins. The karyotype was normal, 46, XY, and no microdeletion of Y chromosome was detected. However, a homozygous deletion mutation was found in DPY19L2, which was further diagnosed as globozoospermia. The present study reported a male infertility patient who was diagnosed with globozoospermia. The analysis of gene mutations revealed that DPY19L2 had a homozygous mutation, which was the primary cause of globozoospermia.

中文翻译：

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从不孕症患者的 DPY19L2 中鉴定一种新的缺失突变：病例报告。

男性不育症是全世界日益关注的医学问题。在大多数情况下，遗传因素被认为是该病的主要原因。球形精子症（MIM102530）（又称圆头精子）是一种罕见的严重畸形精子症，由顶体缺乏或严重畸形引起。过去几年已经报道了与球形精子症相关的基因突变子集，例如 DNAH6、SPATA16、DPY19L2、PICK1 和 CCIN。DPY19L2 突变常见于球形精子症患者。在此，通过拷贝数变异测序 (CNVseq) 鉴定了 12q14.2 (g.63950001–64130000) 处的 180-kbp 纯合子缺失，包括 DPY19L2 的完全缺失。厦门大学第一附属医院一名27岁的患者被诊断为不孕症，原因是，尽管进行了 4 年的正常性活动，但他的妻子没有怀孕。患者身体健康，无明显不适，无不良化学品接触史，无吸烟、饮酒等恶习。体格检查显示生殖器发育正常。然而，精液测试显示正常精子数为 0%，形态为圆头。精子细胞学显示顶体酶低于正常值。生殖激素在正常范围内。B超未见精囊、前列腺、双侧睾丸、附睾、精索静脉异常。核型正常，46，XY，未检测到Y染色体微缺失。然而，在DPY19L2中发现了纯合缺失突变，进一步诊断为球形精子症。本研究报告了一名男性不育症患者，他被诊断患有球精子症。基因突变分析表明，DPY19L2有一个纯合突变，这是导致球精子症的主要原因。