• PMID: 17847006
• Gene Name: SPATA16
• Condition: Assocaited with male infertility in human globozoospermia
• Association: Associated
• Population size: 3
• Population details: 3 brothers
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Assocaited with male infertility in human globozoospermia

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

Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S.

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. FAU - Dam, Anika H D M AU - Dam AH AD - Centre for Reproduction, Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. FAU - Koscinski, Isabelle AU - Koscinski I FAU - Kremer, Jan A M AU - Kremer JA FAU - Moutou, Celine AU - Moutou C FAU - Jaeger, Anne-Sophie AU - Jaeger AS FAU - Oudakker, Astrid R AU - Oudakker AR FAU - Tournaye, Herman AU - Tournaye H FAU - Charlet, Nicolas AU - Charlet N FAU - Lagier-Tourenne, Clotilde AU - Lagier-Tourenne C FAU - van Bokhoven, Hans AU - van Bokhoven H