Monogenic hearing loss

Gene: OXR1

I don't know

Comment on gene rating: This gene should be rated AMBER as there is one case and supportive functional data to associate OXR1 with hearing loss.

A four years old girl was identified with a novel homozygous missense variant (c.233A > G, p.Lys78Arg) in OXR1 gene and was reported with sensorineural hearing loss.

Functional studies in zebrafish model showed that the ortholog orx1b gene is expressed in the statoacoustic ganglion (SAG, a sensory ganglion of ear) and posterior lateral line ganglion (pLL). In addition, knockdown of oxr1b resulted in a significant developmental defect of SAG and pLL and this phenotype was rescued by co-injection of wild-type human OXR1 mRNAs, but not mutant OXR1 (c.233A > G) mRNAs.

This gene has not yet been associated with hearing loss either in OMIM or in Gene2Phenotype.
Sources: Literature

Created: 9 Mar 2023, 1:49 p.m. | Last Modified: 9 Mar 2023, 1:53 p.m.

Panel Version: 3.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sensorineural hearing loss disorder, MONDO:0020678

Publications

• 36130215