First reported CABP2-related non-syndromic hearing loss in Northern Europe.

Inger Norlyk Sheyanth Allan Thomas HøjlandHenrik OkkelsIhab LolasChristian ThorupMichael Bjørn Petersen

Published in: Molecular genetics & genomic medicine (2021)

We report the first case of CABP2-related autosomal recessive hearing loss in Northern Europe. The index is of Danish Caucasian origin and found to be homozygous for the splice site variant c.637+1G>T.

Keyphrases

hearing loss
intellectual disability
drug induced