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However, the genetic basis of this syndromic presentation remains unclear. Using whole\u2010exome sequencing, we identified a novel homozygous\n                    <jats:italic>ARL2BP<\/jats:italic>\n                    splice\u2010site mutation (c.294\u20102A&gt;G) in a 23\u2010year\u2010old infertile male from a consanguineous family who presented with syndromic PCD and MMAF. This variant causes aberrant pre\u2010mRNA splicing and triggers nonsense\u2010mediated mRNA decay, resulting in the complete absence of ARL2BP protein expression. Transmission electron microscopy revealed extensive disorganization of flagellar axonemes with consistent central pair (CP) microtubule depletion and disorganization of peripheral doublets. Immunofluorescence confirmed a severe deficiency of the CP protein SPAG6 in the sperm flagella. Notably, the patient presented without retinal symptoms. Given that\n                    <jats:italic>ARL2BP<\/jats:italic>\n                    \u2010related retinitis pigmentosa generally emerges during the third decade, long\u2010term ophthalmological follow\u2010up is essential to detect delayed\u2010onset retinal degeneration. In conclusion, these findings confirm\n                    <jats:italic>ARL2BP<\/jats:italic>\n                    as a causative gene for both PCD and MMAF, expanding the genotypic and phenotypic spectrum of ciliopathies.\n                  <\/jats:p>","DOI":"10.1155\/humu\/7635300","type":"journal-article","created":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T08:25:23Z","timestamp":1787646323000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Homozygous Mutation in\n                    <i>ARL2BP<\/i>\n                    Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary 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