A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

Suzanne E de Bruijn Jeroen J SmitsChang LiuCornelis P LantingAndy J BeynonJoëlle BlankevoortJaap OostrikWouter KooleErik de VriezeCor W R J CremersFrans P M CremersSusanne RoosingHelger G YntemaHenricus P M KunstBo ZhaoRonald J E PenningsHannie Kremernull null

Published in: Journal of medical genetics (2020)

Collectively, the presented data demonstrate that an inherited form of adult-onset hearing loss is relatively common, with potentially thousands of individuals at risk in the Netherlands and beyond, which makes it an attractive target for developing a (genetic) therapy.

Keyphrases

hearing loss
electronic health record
genome wide
big data
stem cells
gene expression
dna methylation
machine learning
cell therapy