Expanding the sperm phenotype caused by mutations in SPATA20: a novel splicing mutation in an infertile patient with partial globozoospermia.

The study identifies a novel biallelic pathogenic mutation in SPATA20 (c.1957+2T>A) in one infertile patient presenting with partial globozoospermia supporting its involvement in sperm head defects. The sperm phenotype described in our patient is however slightly different from the typical acephalic spermatozoa syndrome (ASS) previously reported. This data suggests a phenotypic heterogeneity associated with SPATA20 mutation and raises the hypothesis of a phenotypic continuum between partial or pseudo-globozoospermia and ASS. Last, our study confirmed that ICSI does not seem to be a valuable therapeutic option for patient with SPATA20 mutation. This article is protected by copyright. All rights reserved.