Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.
Ryan J GermanBlake VuocoloLiesbeth VossaertNichole OwenRichard A LewisLisa Sabanull nullMichael F WanglerSandesh NagamaniPublished in: Molecular genetics & genomic medicine (2024)
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.
Keyphrases
- end stage renal disease
- healthcare
- genome wide
- newly diagnosed
- ejection fraction
- chronic kidney disease
- copy number
- optical coherence tomography
- prognostic factors
- case report
- diabetic retinopathy
- peritoneal dialysis
- patient reported outcomes
- gene expression
- transcription factor
- mass spectrometry
- optic nerve
- bioinformatics analysis