A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome

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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.

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Lu, M., Kong, S., Xiang, M., Wang, Y., Zhang, J., Duan, Z., … Zhu, F. (2021). A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome. Journal of Assisted Reproduction and Genetics, 38(4), 949–955. https://doi.org/10.1007/s10815-021-02075-7

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