biostudies-literatureUnknown2025Feshbach LHPrimary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD. One of the genes, <i>HYDIN</i>, presents a diagnostic challenge due to the existence of <i>HYDIN2</i>, a highly homologous pseudogene that significantly complicates accurate molecular diagnosis. Here, we present a 43-year-old female with a clinical diagnosis of PCD seeking molecular diagnosis underlying her disease. Short-read genome sequencing detected two potentially pathogenic <i>HYDIN</i> variants (c.5416C > T and c.3786-1G > T), but clinical validation was hindered due to the pseudogene overlap. Using clinical long-read genome sequencing (lrGS), we confirmed the presence of both <i>HCase reports in genetics5109434https://www.ebi.ac.uk/biostudies/studies/S-EPMC12674883biostudies-literatureLong-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia.PMC12674883Ghosh RFeshbach LHLewis KLAmendola LMSimiluk MTokita MWalkiewicz MALipton AfalseLong-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia.Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD. One of the genes, <i>HYDIN</i>, presents a diagnostic challenge due to the existence of <i>HYDIN2</i>, a highly homologous pseudogene that significantly complicates accurate molecular diagnosis. Here, we present a 43-year-old female with a clinical diagnosis of PCD seeking molecular diagnosis underlying her disease. Short-read genome sequencing detected two potentially pathogenic <i>HYDIN</i> variants (c.5416C > T and c.3786-1G > T), but clinical validation was hindered due to the pseudogene overlap. Using clinical long-read genome sequencing (lrGS), we confirmed the presence of both <i>H2025-01-01T00:00:00Z20252026-05-23T03:24:11.837Z2026-05-23T03:13:55.427ZS-EPMC126748834134665610.1155/crig/5109434