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- Title
A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome.
- Authors
Lu, Mengmeng; Kong, Shuai; Xiang, Mingfei; Wang, Yu; Zhang, Jingjing; Duan, Zongliu; Zha, Xiaomin; Wang, Fengsong; Cao, Yunxia; Zhu, Fuxi
- Abstract
Purpose: To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome. Methods: Sanger sequencing was used to screen for mutations in the known pathogenic genes SUN5 and PMFBP1 in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were used to detect the expression and localization of PMFBP1 in sperm. At the same time, a PMFBP1 mutant was constructed, and the expression level of PMFBP1 protein was further verified by in vitro experiments. Results: We identified a novel homozygous PMFBP1 missense mutation, c.301A>C (p.T101P), in an infertile male from a consanguineous family. Our results showed that the expression of PMFBP1 mutant protein was decreased obviously in sperm of the patient. Conclusion: Our results showed that the novel homozygous missense mutation of PMFBP1 may be a cause of acephalic spermatozoa syndrome, which provided a basis for genetic counseling for the patient.
- Subjects
SPERMATOZOA; MISSENSE mutation; GENETIC counseling; MUTANT proteins; WESTERN immunoblotting; INFERTILITY; SYNDROMES
- Publication
Journal of Assisted Reproduction & Genetics, 2021, Vol 38, Issue 4, p949
- ISSN
1058-0468
- Publication type
Article
- DOI
10.1007/s10815-021-02075-7