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首页> 外文期刊>Molecular cytogenetics >Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report
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Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report

机译：用GloboOspermia的不育患者鉴定DPY19L2中的新型缺失突变：案例报告

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Background: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.Case presentation: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.Conclusions: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.? The Author(s) 2020.
机译：背景：男性不育症是全球医学关注的日益增加。在大多数情况下，遗传因素被认为是疾病的主要原因。 Globozoospermia（MIM102530）（也称为圆头精子）是由缺乏缺乏或严重畸形引起的罕见和严重的畸形精子症。过去几年报告了与GloboOspermia相关的遗传突变的遗传突变子集，例如DNAH6，SPATA16，DPY19L2，PICK1和CCIN。 DPY19L2突变常见于球状孢子症患者。在此，通过拷贝数变异测序（CNVseq）在具有GloboOspermia的患者中鉴定了180kbp纯合理缺失（G.63950001-64130000），包括DPY19L2.CASE演示的完全删除：27年 - 厦门大学第一个附属医院的患者被诊断出来患有不孕症，因为尽管4年的性行为正常的性活动，但他的妻子没有想象。患者身体健康，没有明显的不适，没有不利的化学曝光史，没有恶习，如吸烟和饮酒。体检显示正常的生殖器发展。然而，精液测试显示正常精子计数0％，形态是圆头。精子细胞学表明，仿素酶低于正常。生殖激酮在正常范围内。 B超声未显示出任何异常的囊泡，前列腺，双侧睾丸，附睾和精静脉。核型是正常的，46，XY，并且没有检测到Y染色体的微履带。然而，在DPY19L2中发现了纯合的缺失突变，其进一步被诊断为Globozoospermia.Conclusions：本研究报告了患有GlootoOspermia的男性不孕症患者。基因突变的分析表明，DPY19L2具有纯合突变，这是GlootoOspermia的主要原因。作者2020年。

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