Novel and recurrent TUBB8 variants cause irreversible meiotic spindle defects and refractory ART failure in Chinese women with oocyte maturation arrest.
Sep 2026· Journal of Assisted Reproduction and Genetics· 0 citations· 36 references
Medicine
TL;DR
Routine TUBB8 genetic screening is supported as a valuable diagnostic tool for unexplained recurrent OMA, facilitating early diagnosis, avoidance of futile ART cycles, and personalized reproductive counseling and expands the pathogenic mutational spectrum of TUBB8.
A 27-year-old Asian - Indian woman from a consanguineous family with 5 years of primary infertility and two IVF cycles characterized by poor metaphase II oocyte yield and complete blastocyst arrest is reported, highlighting the value of genomic testing in women with recurrent IVF failure and an OMA-like embryology phen...
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Biallelic pathogenic PATL2 variants constitute a major monogenic driver of refractory GV-predominant OOMD and complete recurrent ART failure and substantially expands the global spectrum of disease-causing PATL2 variants.
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Pregnancy loss represents one of the most common adverse outcomes in human reproduction, yet its genetic etiology remains incompletely understood. Our study aimed to identify novel genetic causes in patients presenting with pregnancy loss and hydatidiform mole.
We recruited 80 patients with a history of ad...
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This study proposes RAD54L as a potential novel candidate gene linked to NOA and underscores the efficacy of WGS in identifying rare genetic etiologies of idiopathic male infertility.
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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)...
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