Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

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Abstract

Globozoospermia is a rare (incidence <0.1% in male infertile patients) form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. It originates from a disturbed spermiogenesis, which is expected to be induced by a genetic factor. Several family cases and recessive mouse models with the same phenotype support this expectation. In this study, we present a consanguineous family with three affected brothers, in whom we have identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. This is the first example of a nonsyndromic male infertility condition in humans caused by an autosomal gene defect, and it could also mean that the identification of other partners like SPATA16 could elucidate acrosome formation. © 2007 by The American Society of Human Genetics. All rights reserved.

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Dam, A. H. D. M., Koscinski, I., Kremer, J. A. M., Moutou, C., Jaeger, A. S., Oudakker, A. R., … Viville, S. (2007). Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. American Journal of Human Genetics, 81(4), 813–820. https://doi.org/10.1086/521314

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