Article
A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.
Molecular human reproduction - 1 Dec 2011
Ben Khelifa Mariem, Zouari Raoudha, Harbuz Radu, Halouani Lazhar, Arnoult Christophe, Lunardi Joël, Ray Pierre F
Abstract excerpt
The presence of close to 100% large-headed multi-tailed spermatozoa in the ejaculate has been described as a rare phenotype of male infertility with a very poor prognosis. We demonstrated previously that most cases were caused by a homozygous mutation (c.144delC) in the Aurora Kinase C gene (AURKC) leading to the absence or the production of a non-functional protein. AURKC deficiency in these patients blocked...
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