Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.

Bojana RadojevicKaylie D JonesMartin KleinMargarita Mauro-HerreraRonald KingsleyDavid G BirchLea D Bennett

Published in: Ophthalmic genetics (2020)

This is the first report for six novel CNGB1 variants associated with arRP. Two families had olfactory dysfunction in patients with arRP and family members who were heterozygous for a CNGB1 mutation. Additionally, findings demonstrated variable penetrance and expressivity of disease in these patients.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
oxidative stress
genome wide
peritoneal dialysis
early onset
gene expression
transcription factor