Nuclear sperm integrity and ICSI prognosis in Tunisian patients with MMAF syndrome (multiple morphological abnormalities of the sperm flagella).

Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) is a severe form of teratozoospermia associated with several sperm flagellar abnormalities. The study included 52 patients with MMAF syndrome and a control group of 25 fertile men. The impact of nuclear sperm quality on intracytoplasmic sperm injection (ICSI) results was studied in 20 couples.

Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients.

The aim of this study was to compare the sperm morphology and nuclear sperm quality (sperm aneuploidy and DNA fragmentation) in two groups of globozoospermic patients: DPY19L2-mutated patients (n = 6) and SPATA16-mutated patients (n = 2). Results for these two groups were also compared to a group of fertile men (n = 25). Fluorescence in situ hybridisation was performed for chromosomes X, Y and 18.

Nuclear sperm quality in total polymorphic teratozoospermia and its impact on intracytoplasmic sperm injection outcome.

Various nuclear sperm alterations are reported in patients with syndromic teratozoospermia; however, this has not been clearly identified yet in total polymorphic teratozoospermia. The aim of this study was to analyse sperm aneuploidy, DNA integrity and chromatin packaging in 45 infertile patients with total polymorphic teratozoospermia, and to compare obtained results with those collected from 25 fertile men. For 14 patients, the impact of nuclear sperm abnormalities on intracytoplasmic sperm injection (ICSI) outcomes was analysed.

A new mutation identified in SPATA16 in two globozoospermic patients.

Purpose: The aim of this study is to identify potential genes involved in human globozoopsermia.

Methods: Nineteen globozoospermic patients (previously screened for DPY19L2 mutations with no causative mutation) were recruited in this study and screened for mutations in genes implicated in human globozoospermia SPATA16 and PICK1. Using the candidate gene approach and the determination of Spata16 partners by Glutathione S-transferase (GST) pull-down four genes were also selected and screened for mutations.

Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.

Study Hypothesis: The purpose of this study was to analyze DPY19L2 sequence variants to investigate the mechanism leading to the entire DPY19L2 deletion in a large cohort of infertile globozoospermic patients.

Study Finding: An improved analysis of the DPY19L2 deletion breakpoints (BPs) allowed us to identify two BPs located in a small 1 kb region and to more precisely localize the BPs reported previously.

What Is Known Already: Three genes [spermatogenesis associated 16 (SPATA16), protein interacting with PRKCA (PICK1) and DPY19L2] were previously correlated with globozoospermia, but a homozygous deletion of the entire DPY19L2 was identified as the most frequent alteration causing this phenotype.