Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia |
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| Authors: | Dam Anika H D M Koscinski Isabelle Kremer Jan A M Moutou Celine Jaeger Anne-Sophie Oudakker Astrid R Tournaye Herman Charlet Nicolas Lagier-Tourenne Clotilde van Bokhoven Hans Viville Stephane |
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| Affiliation: | Centre for Reproduction, Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. |
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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. |
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