{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T16:42:54Z","timestamp":1786725774270,"version":"build-2736575974"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (\n                      <jats:italic toggle=\"yes\">CCDC103<\/jats:italic>\n                      ) is an outer dynein arm assembly factor, and pathogenic variants of\n                      <jats:italic toggle=\"yes\">CCDC103<\/jats:italic>\n                      cause primary ciliary dyskinesia (PCD). However, whether\n                      <jats:italic toggle=\"yes\">CCDC103<\/jats:italic>\n                      pathogenic variants cause severe asthenoteratozoospermia has yet to be determined. Whole-exome sequencing (WES) was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family. A homozygous\n                      <jats:italic toggle=\"yes\">CCDC103<\/jats:italic>\n                      variant segregating recessively with an infertility phenotype was identified (ENST00000035776.2, c.461A&gt;C, p.His154Pro).\n                      <jats:italic toggle=\"yes\">CCDC103<\/jats:italic>\n                      p.His154Pro was previously reported as a high prevalence mutation causing PCD, though the reproductive phenotype of these PCD individuals is unknown. Transmission electron microscopy (TEM) of affected individuals\u2019 spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms, similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation. Thus, our findings expand the phenotype spectrum of\n                      <jats:italic toggle=\"yes\">CCDC103<\/jats:italic>\n                      p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aja2021122","type":"journal-article","created":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T07:52:37Z","timestamp":1646380357000},"page":"255-259","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":19,"title":["A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein 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