Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, Anhui, China.
J Assist Reprod Genet. 2021 Apr;38(4):949-955. doi: 10.1007/s10815-021-02075-7. Epub 2021 Jan 23.
To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome.
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.
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.
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.
鉴定导致无头精子症综合征的 PMFBP1 致病突变。
对一名无头精子症综合征患者进行 Sanger 测序，以筛选已知致病基因 SUN5 和 PMFBP1 的突变。采用 Western blot 和免疫荧光技术检测 PMFBP1 在精子中的表达和定位。同时构建 PMFBP1 突变体，并通过体外实验进一步验证 PMFBP1 蛋白的表达水平。
我们在一名来自近亲家庭的不育男性中鉴定出一种新的纯合 PMFBP1 错义突变 c.301A>C（p.T101P）。我们的结果表明，患者精子中 PMFBP1 突变蛋白的表达明显降低。
我们的结果表明，PMFBP1 的新型纯合错义突变可能是无头精子症综合征的一个原因，为患者的遗传咨询提供了依据。
