TY - JOUR AU - Li, You-zhu AU - Wu, Rong-feng AU - Zhu, Xing-shen AU - Liu, Wen-sheng AU - Ye, Yuan-yuan AU - Lu, Zhong-xian AU - Li, Na PY - 2020 DA - 2020/06/22 TI - Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report JO - Molecular Cytogenetics SP - 24 VL - 13 IS - 1 AB - 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. SN - 1755-8166 UR - https://doi.org/10.1186/s13039-020-00495-1 DO - 10.1186/s13039-020-00495-1 ID - Li2020 ER -