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.

Actin-like 9 (ACTL9) is a testis-specific actin-like protein located in the perinuclear theca of the sperm head and neck that plays a role in acrosome formation and sperm head shaping. Pathogenic mutations in ACTL9 have been reported to be associated with male infertility and fertilization failure after conventional in...