until further notice
SourceAmerican Journal of Human Genetics, 81, 4, (2007), pp. 813-20
Article / Letter to editor
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American Journal of Human Genetics
SubjectDCN 2: Functional Neurogenomics; NCEBP 12: Human Reproduction; NCMLS 6: Genetics and epigenetic pathways of disease; UMCN 5.1: Genetic defects of metabolism; UMCN 5.2: Endocrinology and reproduction
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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