KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.

ABSTRACT: Individuals with Kabuki syndrome type 1 (KS1) often have hearing loss recognized in middle childhood. Current clinical dogma suggests that this phenotype is caused by frequent infections due to the immune deficiency in KS1 and/or secondary to structural abnormalities of the ear. To clarify some aspects of hearing loss, we collected information on hearing status from 21 individuals with KS1 and found that individuals have both sensorineural and conductive hearing loss, with the average age of presentation being 7 years. Our data suggest that while ear infections and structural abnormalities contribute to the observed hearing loss, these factors do not explain all loss. Using a KS1 mouse model, we found hearing abnormalities from hearing onset, as indicated by auditory brainstem response mea

SUBMITTER: Kalinousky AJ 

PROVIDER: S-EPMC10815913 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature