globozoospermia
MIM.102530 6q21
Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects.
The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process.
Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon.
Etiology
germline mutations in SPATA16 (MIM.609856)
references
Dam, A. H. D. M.; Koscinski, I.; Kremer, J. A. M.; Moutou, C.; Jaeger, A.-S.; Oudakker, A. R.; Tournaye, H.; Charlet, N.; Lagier-Tourenne, C.; van Bokhoven, H.; Viville, S. : Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am. J. Hum. Genet. 81: 813-820, 2007. PubMed ID : 17847006