{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["2025"],"submitter":["Feshbach LH"],"pubmed_abstract":["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>H"],"journal":["Case reports in genetics"],"pagination":["5109434"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12674883"],"repository":["biostudies-literature"],"pubmed_title":["Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia."],"pmcid":["PMC12674883"],"pubmed_authors":["Ghosh R","Feshbach LH","Lewis KL","Amendola LM","Similuk M","Tokita M","Walkiewicz MA","Lipton A"],"additional_accession":[]},"is_claimable":false,"name":"Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia.","description":"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>H","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-05-23T03:24:11.837Z","creation":"2026-05-23T03:13:55.427Z"},"accession":"S-EPMC12674883","cross_references":{"pubmed":["41346656"],"doi":["10.1155/crig/5109434"]}}