{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T08:32:55Z","timestamp":1791361975312,"version":"4.3.1"},"reference-count":26,"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":[[2023,5]]},"abstract":"<jats:p>\n                    Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (\n                    <jats:italic toggle=\"yes\">DNAH8<\/jats:italic>\n                    ) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed\n                    <jats:italic toggle=\"yes\">DNAH8<\/jats:italic>\n                    mRNA decay in these patients with the\n                    <jats:italic toggle=\"yes\">DNAH8<\/jats:italic>\n                    mutation. Hematoxylin\u2013eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Furthermore, an immunofluorescence assay showed the absence of\n                    <jats:italic toggle=\"yes\">DNAH8<\/jats:italic>\n                    and a reduction in its associated protein DNAH17 in the patients\u2019 spermatozoa. Collectively, our study expands the phenotypic spectrum of patients with\n                    <jats:italic toggle=\"yes\">DNAH8<\/jats:italic>\n                    -related MMAF worldwide.\n                  <\/jats:p>","DOI":"10.4103\/aja202274","type":"journal-article","created":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T15:12:28Z","timestamp":1666969948000},"page":"350-355","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":25,"title":["A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family"],"prefix":"10.4103","volume":"25","author":[{"given":"Sobia","family":"Dil","sequence":"first","affiliation":[{"name":"Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences 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