Article
Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility.
Acta biochimica et biophysica Sinica - 26 Mar 2021
Weng Mingxiang, Sha Yanwei, Zeng Y U, Huang Ningyu, Liu Wensheng, Zhang Xinzong, Zhou Huiliang
Abstract excerpt
Asthenoteratospermia is an important cause of male infertility. Here, we report two infertile patients with severe asthenoteratospermia accompanied by new genetic abnormality. Whole-exome sequencing and bioinformatics analysis suggested that compound heterozygous mutations in DNAH8 (MIM:603337) may be responsible for multiple morphological abnormalities of the sperm flagella (MMAF). Immunofluorescence assay...
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