Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia

• DOI: 10.4103/aja202495
• Publication Date: 2025-01-10T06:00:34Z
• Authors: Hao-Wei Bai; Na Li; Yu-Xiang Zhang; Jia-Qiang Luo; Ru-Hui Tian; Peng Li; Yu-Hua Huang; Fu-Rong Bai; Cun-Zhong Deng; Fu-Jun Zhao; Ren Mo; Ning Chi; Yu-Chuan Zhou; Zheng Li; Chen-Cheng Yao; Er-Lei Zhi
• Keywords: Y chromosome microdeletion

Abstract Nonobstructive azoospermia (NOA), one of the most severe types male infertility, etiology often remains unclear in cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) minichromosome maintenance domain containing 2 ( MCMDC2 ) genes 768 NOA patients by whole-exome sequencing (WES). Hematoxylin and eosin (H&E) demonstrated that deleterious caused meiotic arrest three (c.1360G>T, c.1956G>T, c.685C>T) hypospermatogenesis patient (c.94G>T), as further confirmed through immunofluorescence (IF) staining. The single-cell RNA data indicated was substantially expressed during spermatogenesis. were responsible for infertility bioinformatics vitro experimental analyses. results revealed related NOA, which contributes current perception function fertility presents new perspectives on genetic NOA.