This study is intended to investigate the candidate pathogenic gene in a patient with primary infertility but without the defect in routine semen parameters from a consanguineous family and explore the potential impacts of mutations on assisted reproductive technology outcome.
Whole-exome sequencing (WES) was carried out. A variant in his family found by WES was verified by Sanger sequencing. Intracytoplasmic sperm injection (ICSI) was applied to obtain a successful outcome.
A Cation Channel of Sperm 3(CATSPER3) homozygous variant (NM_ 178019.3:exon5:c.707T>A, p.L236*) was identified for the first time. The anti-CD46 immunofluorescence analysis revealed the failure of sperm acrosome reaction (AR) caused by the mutation. ICSI treatment was successful.
This is the first report of a homozygous pathogenic CATSPER3 mutation. This mutation may cause male infertility with the failure of AR but without the defect in routine semen parameters. ICSI was supposed to be the most appropriate therapy.
Molecular genetics & genomic medicine. 2020 Dec 22 [Epub ahead of print]
Jiaxiong Wang, Hui Tang, Qinyan Zou, Aiyan Zheng, Hong Li, Shenmin Yang, Jingjing Xiang
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, China., Suzhou Center Affiliated to State Key Laboratory of Reproductive Medicine, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, China.