title: 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.
authors.affiliation: Centre for Reproduction, Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Anika H D M
authors.initials: AH
authors.lastname: Dam
authors.forename: Isabelle
authors.initials: I
authors.lastname: Koscinski
authors.forename: Jan A M
authors.initials: JA
authors.lastname: Kremer
authors.forename: Celine
authors.initials: C
authors.lastname: Moutou
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: Jaeger
authors.forename: Astrid R
authors.initials: AR
authors.lastname: Oudakker
authors.forename: Herman
authors.initials: H
authors.lastname: Tournaye
authors.forename: Nicolas
authors.initials: N
authors.lastname: Charlet
authors.forename: Clotilde
authors.initials: C
authors.lastname: Lagier-Tourenne
authors.forename: Hans
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: Stephane
authors.initials: S
authors.lastname: Viville
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013091:Spermatogenesis / Q000235:genetics; D013094:Spermatozoa / Q000002:abnormalities*; D033921:Vesicular Transport Proteins
chemical_list: D018398:Homeodomain Proteins; C474264:SPATA16 protein, human; D033921:Vesicular Transport Proteins; D004247:DNA