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The identification of these mutations in NOA patients has always been a research hot spot in the area of human infertility. However, compared with more than 600 genes reported to be essential for fertility in mice, mutations in approximately 75 genes have been confirmed to be pathogenic in patients with male infertility, in which only 14 were identified from NOA patients. The small proportion suggested that there is much room to improve the methodology of mutation screening and functional verification. Fortunately, recent advances in whole exome sequencing and Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)\u2013Cas9 have greatly promoted research on the etiology of human infertility and made improvements possible. In this review, we have summarized the pathogenic mutations found in NOA patients and the efforts we have made to improve the efficiency of mutation screening from NOA patients and functional verification with the application of new technologies.<\/jats:p>","DOI":"10.1093\/biolre\/ioac089","type":"journal-article","created":{"date-parts":[[2022,5,9]],"date-time":"2022-05-09T12:31:39Z","timestamp":1652099499000},"page":"85-94","source":"Crossref","is-referenced-by-count":12,"title":["Identification of pathogenic mutations from nonobstructive azoospermia patients"],"prefix":"10.1093","volume":"107","author":[{"given":"Hanwei","family":"Jiang","sequence":"first","affiliation":[{"name":"Division of Reproduction and Genetics, First Affiliated Hospital of USTC, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Hefei National Research Center for Physical Sciences at the Microscale, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and 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