
This study aimed to identify novel variants and candidate mutant hotspots of the DNAH1 gene related to Multiple morphological abnormalities of sperm flagella (MMAF) and male infertility in humans. The study identified eighteen DNAH1 variants in eleven unrelated families, including nine missense variants. Morphological analysis based on Papanicolaou staining and scanning electron microscopy demonstrated the typical MMAF characteristics of DNAH1‐defecient spermatozoa. These findings further expand the variant spectrum of the DNAH1 gene related to MMAF and male infertility in humans, thus providing new information for the molecular diagnosis of asthenoteratozoospermia. The favourable fertility outcomes of intracytoplasmic sperm injection (ICSI) will facilitate future genetic counselling and clinical treatment of infertile males with MMAF.
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