2024
DOI: 10.1002/mgg3.2404
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Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

Ryan J. German,
Blake Vuocolo,
Liesbeth Vossaert
et al.

Abstract: BackgroundThe 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.MethodsThe 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 diagnos… Show more

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