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.

中文翻译：

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PMFBP1的一种新的纯合错义突变导致头侧精子综合征

目的

鉴定PMFBP1中导致头侧精子综合征的致病突变。

方法

桑格测序用于筛查头侧精子综合征患者已知致病基因SUN5和PMFBP1的突变。采用蛋白质印迹法和免疫荧光法检测PMFBP1在精子中的表达和定位。同时构建了一个PMFBP1突变体，通过体外实验进一步验证了PMFBP1蛋白的表达水平。

结果

我们在来自近亲家庭的不育男性中发现了一种新的纯合PMFBP1错义突变，c.301A>C (p.T101P)。我们的结果表明，PMFBP1突变蛋白在患者精子中的表达明显降低。

结论

我们的研究结果表明，PMFBP1的新型纯合错义突变可能是导致头侧精子综合征的原因，这为患者的遗传咨询提供了依据。