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Acephalic spermatozoa syndrome is a severe teratozoospermia that leads to male infertility. Our previous work showed that biallelic SUN5 mutations are responsible for acephalic spermatozoa syndrome in about half of affected individuals, while pathogenic mechanisms in the other individuals remain to be elucidated. Here, we identified a homozygous nonsense mutation in the testis-specific gene PMFBP1 using whole-exome sequencing in a consanguineous family with two infertile brothers with acephalic spermatozoa syndrome. Sanger sequencing of PMFBP1 in ten additional infertile men with acephalic spermatozoa syndrome and without SUN5 mutations revealed two homozygous variants and one compound heterozygous variant. The disruption of Pmfbp1 in male mice led to infertility due to the production of acephalic spermatozoa and the disruption of PMFBP1's cooperation with SUN5 and SPATA6, which plays a role in connecting sperm head to the tail. PMFBP1 mutation-associated male infertility could be successfully overcome by intracytoplasmic sperm injection (ICSI) in both mouse and human. Thus, mutations in PMFBP1 are an important cause of infertility in men with acephalic spermatozoa syndrome.
Pubmed ID: 30032984
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View all literature mentionsWorldwide authority that approves standardized nomenclature to gene name and symbol, short form abbreviation, for each known human gene and stores all approved symbols in HGNC database. Approved human gene nomenclature. Database of gene symbols. Manually curated genes into family sets based on shared characteristics such as homology, function or phenotype. Data for protein-coding genes, pseudogenes, non-coding RNAs, phenotypes and genomic features.
View all literature mentionsOnline catalog of human genes and genetic disorders, for clinical features, phenotypes and genes. Collection of human genes and genetic phenotypes, focusing on relationship between phenotype and genotype. Referenced overviews in OMIM contain information on all known mendelian disorders and variety of related genes. It is updated daily, and entries contain copious links to other genetics resources.
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View all literature mentionsThis monoclonal targets Mouse Sperm Protein sp56
View all literature mentionsThis polyclonal targets SPAG4L
View all literature mentionsMus musculus with name B6D2F1/J from IMSR.
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