Article
Novel DNAH17 Splice-Site Mutations Truncating the AAA6 Domain Cause Asthenozoospermia with MMAF.
Reproductive sciences (Thousand Oaks, Calif.) - 1 Dec 2025
Feng Leilei, Wan Feng, Cui Chenchen, Feng Ke, Xia Yanqing, Qu Xiaowei, Yang Bei, Wang Jinwei, Wang Longze, Zhang Cuilian, Guo Haibin
Abstract excerpt
To investigate the pathogenicity of splice-site variants in DNAH17, and analyze their impact on sperm morphology and motility, we employed whole-exome sequencing (WES) and Sanger sequencing to identify and validate candidate variants. Computational predictions of splicing defects were performed using varSEAK and MobiDetails. Functional validation was conducted using minigene splicing assays in HEK293T cells....
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