Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.

Kevin T A Booth Kimia Kahrizi Hossein Najmabadi Hela Azaiez Richard J H Smith

Published in: Journal of medical genetics (2018)

These results suggest that loss-of-function mutations in CEACAM16 result in postlingual progressive hearing impairment and further support the role of CEACAM16 in auditory function.

Keyphrases

hearing loss
copy number
intellectual disability
multiple sclerosis
working memory
genome wide
autism spectrum disorder