Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent respiratory infections, nasosinusitis, tympanitis, and/or male infertility, all of which can severely impair the patient’s quality of life. Multiple morphological abnormalities of the sperm flagella (MMAF) is one type of severe teratozoospermia and results from a variety of flagellar defects. In this study, we conducted whole-exome sequencing to identify and evaluate the genetic lesions in two patients with potential PCD and MMAF. Biallelic mutations in exon 10, c.983G>A; p.(Gly328Asp), and exon 29, c.3532G>A; p.(Asp1178Asn), of the CFAP74 (NM_001304360) gene were identified in patient 1 (P1), and biallelic mutations in exon 7, c.652C>T; p.(Arg218Trp), and exon 35, c. 4331G>C; p.(Ser1444Thr), of the same gene were identified in patient 2 (P2). Bioinformatic analysis suggested that these variants may be disease causing. Immunofluorescence confirmed that CFAP74 was absent in these patients’ sperm samples. Intracytoplasmic sperm injection (ICSI) was carried out for P1, and his wife became pregnant after embryo transfer and gave birth to a healthy baby. To the best of our knowledge, this study is the first to identify the importance of CFAP74 in potential PCD and MMAF, contributing to the genetic diagnosis of these disorders and helping to predict pregnancy outcomes relevant in in vitro fertilization.

原发性睫状运动障碍（PCD）是一种罕见的遗传性疾病，其特征是反复出现呼吸道感染，鼻窦炎，鼓膜炎和/或男性不育，所有这些都会严重损害患者的生活质量。精子鞭毛的多种形态异常是严重的畸形精子症的一种，是由多种鞭毛缺陷引起的。在这项研究中，我们进行了全外显子测序，以鉴定和评估两名潜在PCD和MMAF患者的遗传病变。外显子10的双等位基因突变，c.983G> A；p。（Gly328Asp）和外显子29，c.3532G> A; 第（Asp1178Asn），所述的CFAP74（NM_001304360）基因已在患者1（P1）中鉴定，双等位基因突变在第7外显子，c.652C> T；p。（Arg218Trp）和外显子35，c。4331G> C; 在患者2（P2）中鉴定出相同基因的p。（Ser1444Thr）。生物信息学分析表明，这些变异可能是引起疾病的原因。免疫荧光证实这些患者的精子样本中不存在CFAP74。对P1进行了胞浆内精子注射（ICSI），他的妻子在胚胎移植后怀孕，并生下了一个健康的婴儿。据我们所知，这项研究是首次发现CFAP74在潜在PCD和MMAF中的重要性，有助于对这些疾病进行遗传诊断，并有助于预测体外受精相关的妊娠结局。