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Here, we recruited 38 primary infertile patients with the OAT phenotype and 40 adult men with proven fertility for genetic analysis and identified biallelic mutations of\n                    <jats:italic>KATNAL2<\/jats:italic>\n                    by whole\u2010exome sequencing in two cases. F013\/II:1, from a consanguineous family, carried the\n                    <jats:italic>KATNAL2<\/jats:italic>\n                    c.328C\u2009&gt;\u2009T:p.Arg110X homozygous mutations. The other carried c.55A\u2009&gt;\u2009G: p.Lys19Glu and c.169C\u2009&gt;\u2009T: p Arg57Trp biallelic mutations. None of the\n                    <jats:italic>KATNAL2<\/jats:italic>\n                    variants were found in the 40 adult men with proven fertility. The spermatozoa from patients with\n                    <jats:italic>KATNAL2<\/jats:italic>\n                    biallelic mutations exhibited conspicuous defects in maturation, head morphology, and the structure of mitochondrial sheaths and flagella. KATNAL2 was mainly expressed in the pericentriolar material and mitochondrial sheath of the spermatozoa from control subjects, but it was undetectable in the spermatozoa from the patients. Furthermore,\n                    <jats:italic>Katnal2<\/jats:italic>\n                    null male mice were infertile and displayed an OAT phenotype. Our results proved that the biallelic mutations in\n                    <jats:italic>KATNAL2<\/jats:italic>\n                    cause male infertility and OAT in humans for the first time, to our knowledge, which could enrich the genetic defect spectrum of OAT and be beneficial for its accurate genetic screening and clinical diagnosis.\n                  <\/jats:p>","DOI":"10.1111\/cge.14009","type":"journal-article","created":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T06:28:03Z","timestamp":1623047283000},"page":"376-385","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Biallelic mutations in\n                    <scp>\n                      <i>KATNAL2<\/i>\n                    <\/scp>\n                    cause male infertility due to oligo\u2010astheno\u2010teratozoospermia"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3459-7357","authenticated-orcid":false,"given":"Xiaoli","family":"Wei","sequence":"first","affiliation":[{"name":"School of Pharmaceutical Sciences, State Key Laboratory of Cellular Stress Biology Xiamen University  Xiamen Fujian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wensheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology Centre, Department of Obstetrics and Gynaecology, Zhujiang Hospital Southern Medical University  Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingshen","family":"Zhu","sequence":"additional","affiliation":[{"name":"School of Pharmaceutical Sciences, State Key Laboratory of Cellular Stress Biology Xiamen University  Xiamen Fujian 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