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This report describes a variant in <jats:italic>RPGR<\/jats:italic> detected with exome sequencing (ES). Genes like <jats:italic>RPGR<\/jats:italic> have not always been included in panel\u2010based testing and thus genome\u2010wide tests such as ES may be required for accurate diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The Texome Project is studying the impact of ES in medically underserved patients who are in need of genomic testing to guide diagnosis and medical management. The hypothesis is that ES could uncover diagnoses not made by standard medical care.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 58\u2010year\u2010old male presented with retinitis pigmentosa, sensorineural hearing loss, and a family history of retinal diseases. A previous targeted gene panel for retinal disorders had not identified a molecular cause. ES through the Texome Project identified a novel, hemizygous variant in <jats:italic>RPGR<\/jats:italic> (NM_000328.3: c.1302dup, p.L435Sfs*18) that explained the ocular phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Continued genetics evaluation can help to end diagnostic odysseys of patients. Careful consideration of genes represented when utilizing gene panels is crucial to ensure an accurate diagnosis. Medically underserved populations are less likely to receive comprehensive genetic testing in their diagnostic workup. Our report is an example of the medical impact of genomic medicine implementation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2404","type":"journal-article","created":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T09:05:38Z","timestamp":1708938338000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel hemizygous single\u2010nucleotide duplication in <scp><i>RPGR<\/i><\/scp> in a patient with retinal dystrophy and sensorineural hearing loss"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8193-7329","authenticated-orcid":false,"given":"Ryan J.","family":"German","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital  Houston Texas 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