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

Am J Hum Genet. 2007 Oct;81(4):813-20. doi: 10.1086/521314. Epub 2007 Aug 21.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • Female
  • Haplotypes
  • Homeodomain Proteins / genetics*
  • Homozygote
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Male
  • Mutation*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Spermatogenesis / genetics
  • Spermatozoa / abnormalities*
  • Vesicular Transport Proteins


  • Homeodomain Proteins
  • SPATA16 protein, human
  • Vesicular Transport Proteins
  • DNA