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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]

PMID: 17847006

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