• PMID: 31502483
• Gene Name: CCDC9
• Condition: Asthenozoospermia
• Association: Associated
• Mutation: g.47763960C>T, p. Ser109Leu
• Population size: 1
• Population details: 1 case
• Sex: Male
• Infertility type: Male infertility

CCDC9 is identified as a novel candidate gene of severe asthenozoospermia

Sha Y, Xu Y, Wei X, Liu W, Mei L, Lin S, Ji Z, Wang X, Su Z, Qiu P, Chen J, Wang X.

Owing to less than 1% of motile spermatozoa in the ejaculated semen, severe asthenozoospermia is a serious threat to the male reproductive health. Herein, we identified a novel homozygous variant in CCDC9 (NC_000019.9: g.47763960C>T, NM_015603.3, NP_056418.1: p. Ser109Leu) in a patient from a consanguineous family. The variant was highly pathogenic and was predicted to be a candidate gene for asthenozoospermia through in silico analysis. The CCDC9 protein levels were significantly low and its morphology and ultrastructure were severely damaged in the spermatozoa containing the novel variant. Therefore, CCDC9 may be a novel pathogenic gene associated with severe asthenozoospermia.Abbreviations: CCDC9: coiled-coil domain containing 9; AZS: asthenozoospermia; MP: midpiece; MS: mitochondrial sheath; ODF: outer dense fiber; CP: central pair; DMT: doublet microtubule; IDA: inner dynein arm; ODA: outer dynein arm. FAU - Sha, Yanwei AU - Sha Y AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Xu, Yankai AU - Xu Y AD - Department of Urology, Yantai Affiliated Hospital of Binzhou Medical University, Yantai, Shandong, China. FAU - Wei, Xiaoli AU - Wei X AD - School of Pharmaceutical Sciences, Xiamen University, Xiamen, Fujian, China. FAU - Liu, Wensheng AU - Liu W AUID- ORCID: 0000-0001-5977-894X AD - School of Pharmaceutical Sciences, Xiamen University, Xiamen, Fujian, China. FAU - Mei, Libin AU - Mei L AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Lin, Shaobin AU - Lin S AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Ji, Zhiyong AU - Ji Z AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Wang, Xu AU - Wang X AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Su, Zhiying AU - Su Z AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Qiu, Pingping AU - Qiu P AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China. FAU - Chen, Jing AU - Chen J AUID- ORCID: 0000-0002-2451-5928 AD - Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, Fujian, China.