A novel hemizygous missense variant in the BEND2 gene is associated with nonobstructive azoospermia.
Chun-Hai Luo, Zi-Qi Yu, Hong-Yi Wang et al.
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From the abstract
Nonobstructive azoospermia (NOA), the most severe form of male infertility, frequently arises from genetic defects that disrupt spermatogenesis. In this study, a novel hemizygous missense variant (NM_001184767.2 [c.G1069A; p.V357I]) is identified in the X-linked BEN domain-containing 2 ( BEND2 ) gene of a patient with NOA characterized by spermatocyte maturation arrest.