Biallelic FSIP2 variants are associated with sperm defective chromatin condensation beyond MMAF and acrosomal abnormalities.

A novel frameshift variant in TTC29 associated with total asthenozoospermia and male infertility

Genetic, ultrastructural, and heterologous expression evidence supports a deleterious effect of the identified TTC29 variant, thereby expanding the mutational spectrum of TTC29-related infertility and providing further insight into the molecular basis of severe sperm motility disorders.

A CCNA1 Missense Variant Associated With Chromatid Non-Disjunction in Abnormal-Headed Sperm and Male Infertility.

This study establishes the first clinical association between CCNA1 mutations and chromatid non-disjunction in human spermatogenesis, highlighting the limitations of current morphology-based diagnostic thresholds and supports cytogenetic and genomic assessment for severe teratozoospermia (especially head abnormalities)...

CFAP58-deficient human sperm show radial spoke-doublet microtubule interface abnormalities and successful fertilization by ICSI.

A homozygous SPDYA variant associated with meiotic arrest and failed microdissection testicular sperm extraction in non-obstructive azoospermia

Background Non-obstructive azoospermia (NOA) with meiotic maturation arrest is a severe form of male infertility for which genetic diagnosis may inform counseling and sperm-retrieval expectations. Methods Whole-exome sequencing was performed in a consanguineous family with NOA, followed by SPDYA variant screening in 31...

[Genetic analysis of a male with Multiple morphological abnormalities of sperm flagella combined with sperm head abnormalities due to compound heterozygous variants of DNAH1 gene and a literature review].

A novel homozygous chromosomal deletion encompassing the ACTL9 gene is associated with cIVF polyspermy and male infertility.

A homozygous chromosomal microdeletion within the ACTL9 gene in an infertile male characterized by polyspermy in cIVF and nearly total fertilization failure in ICSI is identified and could facilitate the diagnosis of sperm-borne polyspermy.