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Publication : Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.

First Author  Zhu F Year  2018
Journal  Am J Hum Genet Volume  103
Issue  2 Pages  188-199
PubMed ID  30032984 Mgi Jnum  J:266460
Mgi Id  MGI:6241801 Doi  10.1016/j.ajhg.2018.06.010
Citation  Zhu F, et al. (2018) Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. Am J Hum Genet 103(2):188-199
abstractText  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.
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