Novel NUP210L Variants Cause Fertilization Failure and Male Infertility in Humans

Bi-allelic NUP210L variants — deficiency of a nuclear pore complex component essential for spermatogenesis and fertilization

Novel bi-allelic NUP210L variants are identified as a cause of fertilization failure and male infertility. NUP210L encodes a nuclear pore complex component (nucleoporin) specifically expressed in male germ cells. This study expands the spectrum of nucleoporins involved in fertility and contributes to the growing molecular characterization of male infertility genetics.

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Male infertility remains largely under-characterized at the molecular level. Nucleoporins represent an emerging gene family in this field (NUP98, NUP107 previously implicated). NUP210L joins this group and underscores the critical role of nucleocytoplasmic transport in spermatogenesis. This gene should be added to male infertility diagnostic panels.

Clinical impact : 2/3 · Evidence strength : 1/3 · Novelty : 2/2 · Sample size : 0/1 · Journal quality : 1/1 → Total : 6/10