{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:27:33Z","timestamp":1790616453851,"version":"4.1.0"},"reference-count":52,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T00:00:00Z","timestamp":1667865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Multiple morphological abnormalities of the sperm flagella (MMAF), which is characterized as asthenoteratospermia involving absent, short, bent, coiled, and\/or irregular\u2010caliber flagella, is a rare recessive inherited disorder associated with male infertility. To date, genetic causes of MMAF cases are not fully explored.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing was conducted to identify pathogenic variants in a patient with MMAF. The functional effect of the identified mutations was investigated by immunofluorescence staining and western blotting. Intracytoplasmic sperm injection was used to assist fertilization for the patient with MMAF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified novel biallelic mutations, a splicing variant NC_000004.12:g.146937593C&gt;T (c.254+1G&gt;A), and a nonsense mutation NM_001300761.4:c.1185C&gt;G (NP_001287690.1:p.Tyr395*), in <jats:italic>TTC29<\/jats:italic> from an infertile patient. In addition to the typical MMAF phenotype, the patient also presented aberrant morphology of sperm heads. Further functional experiments confirmed the absence of TTC29 expression in the spermatozoa. We also explored the specific expression pattern of <jats:italic>TTC29<\/jats:italic> in human and mouse spermatogenesis. The outcome of intracytoplasmic sperm injection in the patient was unsuccessful, while additional female risk factors should not be excluded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study revealed the novel biallelic mutations in <jats:italic>TTC29<\/jats:italic> in a MMAF patient, which findings expand the mutational spectrum of <jats:italic>TTC29<\/jats:italic> and further contribute to the diagnosis, genetic counseling, and prognosis of male infertility.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2078","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T12:52:27Z","timestamp":1667911947000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Novel biallelic mutations in <i>TTC29<\/i> cause asthenoteratospermia and male 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