Andrology-Open Access
Open Access

Department of Medical Genetics, Southern Medical University, Guangzhou, China

Publications

• Research Article   
  A new heterozygous deletion mutation of the SYCP2 gene caused male infertility due to non-obstructive azoospermia
  Author(s): Lin Tan, Qi Yang, Jianan Liu, Weijun Zhong, Zhongzhi Gan, Qian Liu, Xuedong Wu* and Fu Xiong
  
  Infertility affects 10%-20% of heterosexual couples worldwide and 50% are due to male factors. The most severe type is non-obstructive azoospermia, which is distinguished by a total lack of sperm in the seminal fluid. However, the genetic causes of non-obstructive azoospermia have been incompletely understood. Here, an investigation was conducted on a Chinese family with non-obstructive azoospermia to examine its pathogenesis. Using whole-exome sequencing, we identified a new heterozygous deletion mutation (c.1937_1942delTAAATA, p. Ile646_Asn647del) in exon 24 of SYCP2 gene. SYCP2 is a synaptonemal complex protein that plays an essential role in meiosis. Conservation analysis indicated that amino acid at position 647 was highly conserved among different species. Moreover, there was a notable modification in the three-dimensional transformation of the mutant SYCP2 protein. In vitro fun.. View More»
  DOI: 10.35248/2167-0250.25.14.353

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