翻译成英文n2其它PCD相关基因3个:①患者PCD1和PCD4分别携带CCDC39-的纯合和复合杂合突变c286CT-p-R96X和c732_733delCA-pC244fs-c2802_2803insGTT-pK935delinsVKPCD4的精子呈现典型的精子鞭毛多发畸形且Western-Blot结果显示精子中CCDC39蛋白表达量显著降低。②患者PCD5携带HYDIN基因的复合杂合突变c6316+1GA-c5969-2AG;该突变同时患者精子鞭毛多发形态异常及超微结构缺陷HYDIN及其相关
(2) Three other PCD-related genes: (1) Patient PCD1 and PCD4 carry homozygous and compound heterozygous mutations of CCDC39, respectively, including c.286C>T: p.R96X and c.732_733delCA: p.C244fs/c.2802_2803insGTT, p.K935delinsVK. The sperm of PCD4 showed typical multiple flagellar abnormalities, and Western blot analysis showed a significant decrease in CCDC39 protein expression in sperm. (2) Patient PCD5 carries compound heterozygous mutations of HYDIN, including c.6316+1G>A/c.5969-2A>G. The mutation led to multiple flagellar abnormalities and ultrastructural defects in sperm, and the expression levels of HYDIN and its related proteins SPEF2, SPAG6, RSPH1, and RSPH3 were significantly reduced in sperm. (3) Patient PCD8 carries compound heterozygous mutations of NME5, including c.T209A: p.L70X/c.163delA: p.S55Vfs.
In addition, we identified a novel PCD candidate pathogenic gene ARMC2. We identified a homozygous stopgain mutation of c.C1264T: p.R422X in the ARMC2 gene of patient PCD10. H&E staining showed typical multiple flagellar abnormalities in the sperm of PCD10, mainly short and coiled tails. Transmission electron microscopy observation revealed that the homozygous mutation of the ARMC2 gene caused microtubule "9+2" structural disorder in the sperm flagella of PCD10, including partial central and peripheral microtubule pairs loss.
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