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

  title={Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.},
  author={Anika H D M Dam and Isabelle Koscinski and Jan A. M. Kremer and C{\'e}line Moutou and Anne-Sophie Jaeger and Astrid R Oudakker and Herman J. Tournaye and Nicolas Charlet and Clotilde Lagier-Tourenne and Hans van Bokhoven and St{\'e}phane Viville},
  journal={American journal of human genetics},
  volume={81 4},
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… CONTINUE READING
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