Liu Zhonglin, Wang Chunyan, Ni Feng, Li Tingshu, Yang Fenglian, Wei Han, Li Tengyan, Huang Changhui, Wang Junli, Wang Binbin
Center of Reproductive Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, China.
Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.
Genet Test Mol Biomarkers. 2024 Aug;28(8):337-341. doi: 10.1089/gtmb.2023.0263. Epub 2024 Jun 5.
Asthenozoospermia is the most common factor of male infertility, mainly caused by multiple morphological abnormalities of the sperm flagella (MMAF) and primary ciliary dyskinesia (PCD). Previous studies have shown that genetic factors may contribute to MMAF and PCD. The study aimed to identify novel potentially pathogenic gene mutations in a Chinese infertile man with MMAF and PCD-like phenotypes. A Chinese infertile man with MMAF and PCD was enrolled in this study. Whole exome sequencing and Sanger sequencing were performed to identify potential causative genes and mutations. A novel homozygous missense mutation (c.1450G>A; p.E484K) of was finally identified and Sanger sequencing confirmed that the patient carried the homozygous mutation, which was inherited from his parents. We reported the first homozygous missense mutation in infertile men with MMAF but had other milder PCD symptoms. Our findings not only broaden the disease-causing mutation spectrum of but also provide new insight into the correlation between mutations and MMAF.
弱精子症是男性不育最常见的因素，主要由精子鞭毛多重形态异常（MMAF）和原发性纤毛运动障碍（PCD）引起。以往研究表明，遗传因素可能导致MMAF和PCD。本研究旨在在中国一名具有MMAF和PCD样表型的不育男性中鉴定新的潜在致病基因突变。一名患有MMAF和PCD的中国不育男性被纳入本研究。进行了全外显子组测序和桑格测序以鉴定潜在的致病基因和突变。最终鉴定出一个新的纯合错义突变（c.1450G>A；p.E484K），桑格测序证实该患者携带从其父母遗传而来的纯合突变。我们报道了首例在患有MMAF但有其他较轻PCD症状的不育男性中的纯合错义突变。我们的发现不仅拓宽了致病突变谱，还为突变与MMAF之间的相关性提供了新的见解。
