Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.

Adda VillanuevaPooja BiswasKameron KishabaJohn SukKeerti TadimetiPongali B RaghavendraKarine NadeauBruno LamontagneLambert BusqueSteve GeoffroyIan MongrainGéraldine AsselinSylvie ProvostMarie-Pierre DubéEric NudlemanRadha Ayyagari

Published in: Ophthalmic genetics (2017)

Screening patients diagnosed with IRD from Mexico identified six known mutations and three rare or novel potentially damaging variants in IMPDH1, USH2A, RPE65, ABCA4, and FAM161A genes that segregated with disease.

Keyphrases

end stage renal disease
genome wide
ejection fraction
newly diagnosed
chronic kidney disease
copy number
bioinformatics analysis
prognostic factors
diabetic retinopathy
transcription factor