Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report

Table 1 Computer-assisted semen and sperm morphology analysis

Parameter	December 29, 2021	March 25, 2022
Semen volume (mL)	2.0	2.8
Semen concentration (106/mL)	10.65	11.28
Rapidly progressivey (%)	3.61	2.27
Sperm motility (%)	25.30	6.82
Sperm survival (%)	50	45
Proportion of morphologically normal sperm (%)	0	0

Table 2 Bioinformatics software analysis of the PMFBP1 gene

Gene	Chromosomal location (hg19)	Mutation name	Group frequency in East Asian population	Zygote type	Mutation rating	Related diseases
PMFBP1	chr16:72188109	NM_031293.3: c.414+1G>T (p.)	0.00021	Heterozygous	Probable pathogen	Spermatogenesis Disease Type 31 (618112, AR)
PMFBP1	chr16:72188131	NM_031293.3: c.393del (p.C132Afs*3)	Not recorded	Heterozygous	Probable pathogen