{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T03:54:51Z","timestamp":1783396491510,"version":"3.54.6"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Primary ciliary dyskinesia (PCD), a rare hereditary disorder characterized by impaired ciliary motility, is frequently linked to infertility. Elucidating PCD\u2019s genetic basis is critical for accurate diagnosis and clinical management. However, research on the pathogenicity of intronic variants in non-classical splice regions of\n                      <jats:italic>DNAAF6<\/jats:italic>\n                      \u2014a newly identified PCD-associated gene in recent years\u2014remains scarce.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A proband with primary ciliary dyskinesia (PCD) and male infertility underwent whole exome sequencing (WES), revealing a novel hemizygous intronic variant in the\n                      <jats:italic>DNAAF6<\/jats:italic>\n                      gene (NM_173494.2: c.515 + 3_515+6del, Clinvar Variation ID:4075425). Sanger sequencing confirmed this variant in his affected brother. A minigene splicing assay showed that the variant caused exon six skipping, leading to a frameshift. Transmission electron microscopy (TEM) analysis of sperm flagella indicated absent outer and inner dynein arms, resulting in flagellar immotility.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study identifies and confirms a novel pathogenic intronic variant of\n                      <jats:italic>DNAAF6<\/jats:italic>\n                      in a Chinese PCD family, expanding the\n                      <jats:italic>DNAAF6<\/jats:italic>\n                      mutational spectrum. It also emphasizes the critical role of minigene-based functional validation in interpreting variants of uncertain significance (VUS).\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2025.1692658","type":"journal-article","created":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T22:10:13Z","timestamp":1766009413000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia"],"prefix":"10.3389","volume":"16","author":[{"given":"Yupeng","family":"Long","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huixian","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoyue","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Yi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiong","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinqin","family":"Ren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongyan","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haidong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fenglan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuemei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,12,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"e1009306","DOI":"10.1371\/journal.pgen.1009306","article-title":"Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to Male infertility","volume":"17","author":"Aprea","year":"2021","journal-title":"PLoS Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"67","DOI":"10.2147\/TACG.S127129","article-title":"Primary ciliary dyskinesia: mechanisms and management","volume":"10","author":"Damseh","year":"2017","journal-title":"Appl. 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