Duncan NRI Faculty and Staff Publications
Publication Date
2-1-2024
Journal
Molecular Genetics and Metabolism
DOI
10.1002/mgg3.2404
PMID
38404254
PMCID
PMC10895382
PubMedCentral® Posted Date
2-26-2024
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
Male, Humans, Middle Aged, Eye Proteins, Retinitis Pigmentosa, Genetic Testing, Genes, X-Linked, Hearing Loss, Sensorineural, exome sequencing, retinal dystrophy, retinitis pigmentosa, RPGR
Abstract
Background: The RPGR gene has been associated with X-linked cone-rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been included in panel-based testing and thus genome-wide tests such as ES may be required for accurate diagnosis.
Methods: 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.
Results: A 58-year-old 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 RPGR (NM_000328.3: c.1302dup, p.L435Sfs*18) that explained the ocular phenotype.
Conclusions: 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.
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Genetic Phenomena Commons, Medical Genetics Commons, Neurology Commons, Neurosciences Commons