{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:17:45Z","timestamp":1790651865795,"version":"4.1.0"},"reference-count":32,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:p>\n                    As a specific type of asthenoteratozoospermia, multiple morphological abnormalities of the sperm flagella (MMAF) is characterized by composite abnormalities, including absent, short, coiled, angulation, and irregular-caliber flagella. Mutations in cilia- and flagella-associated protein 43 (\n                    <jats:italic toggle=\"yes\">CFAP43<\/jats:italic>\n                    ) are one of the main causative factors of MMAF established to date. To identify whether there are other\n                    <jats:italic toggle=\"yes\">CFAP43<\/jats:italic>\n                    mutations related to MMAF and to determine the clinical outcomes of assisted reproductive technology for patients with MMAF harboring different mutations, we recruited and screened 30 MMAF-affected Chinese men using a 22-gene next-generation sequencing panel. After systematic analysis, seven mutations in\n                    <jats:italic toggle=\"yes\">CFAP43<\/jats:italic>\n                    , including five novel mutations and two previously reported mutations, were identified from four families and related to MMAF in an autosomal recessive pattern. Papanicolaou staining, immunofluorescence, and electronic microscopy further clarified the semen characteristics and abnormal sperm morphologies, including disorganized axonemal and peri-axonemal structures, of the\n                    <jats:italic toggle=\"yes\">CFAP43<\/jats:italic>\n                    -deficient men. The female partners of two patients were pregnant after undergoing assisted reproductive technology through intracytoplasmic sperm injection, and one of them successfully gave birth to a healthy boy. This study significantly expands the mutant spectrum of\n                    <jats:italic toggle=\"yes\">CFAP43<\/jats:italic>\n                    , and together with the available information regarding male infertility and MMAF, provides new information for the genetic diagnosis and counseling of MMAF in the future.\n                  <\/jats:p>","DOI":"10.4103\/aja2022118","type":"journal-article","created":{"date-parts":[[2023,3,22]],"date-time":"2023-03-22T04:37:10Z","timestamp":1679459830000},"page":"564-571","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":15,"title":["Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection"],"prefix":"10.4103","volume":"25","author":[{"given":"Jing","family":"Ma","sequence":"first","affiliation":[{"name":"Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400010, China"},{"name":"Chongqing Health Center for Women and Children, Chongqing 400010, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun-Hua","family":"Long","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400010, China"},{"name":"Chongqing Health Center for Women and Children, Chongqing 400010, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Bing","family":"Yu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400010, China"},{"name":"Chongqing Health Center for Women and Children, Chongqing 400010, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye-Zhou","family":"Xiang","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Women and Children\u2019s 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Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400010, China"},{"name":"Chongqing Health Center for Women and Children, Chongqing 400010, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Han","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400010, China"},{"name":"Chongqing Health Center for Women and Children, Chongqing 400010, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Jin","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400010, China"},{"name":"Chongqing Health Center for Women and Children, Chongqing 400010, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guo-Ning","family":"Huang","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400010, China"},{"name":"Chongqing Health Center for Women and Children, Chongqing 400010, China"},{"name":"Chongqing Key Laboratory of Human Embryo Engineering, Chongqing 400010, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting-Ting","family":"Lin","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400010, China"},{"name":"Chongqing Health Center for Women and Children, Chongqing 400010, China"},{"name":"Chongqing Key Laboratory of Human Embryo Engineering, Chongqing 400010, 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