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


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.

SUBMITTER: Dam AH 

PROVIDER: S-EPMC2227931 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature

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

Dam Anika H D M AH   Koscinski Isabelle I   Kremer Jan A M JA   Moutou Celine C   Jaeger Anne-Sophie AS   Oudakker Astrid R AR   Tournaye Herman H   Charlet Nicolas N   Lagier-Tourenne Clotilde C   van Bokhoven Hans H   Viville Stephane S  

American journal of human genetics 20070821 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 t  ...[more]

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