Nonsyndromic deafness (LOXHD1-related) is an inherited disorder that causes a partial or total loss of hearing that is not associated with any other symptoms.
Symptoms present in childhood and include bilateral hearing loss at all frequencies, or significant loss of hearing in both ears.
This condition is caused by pathogenic (disease-causing) variants in the LOXHD1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 180 chance to be a carrier.
Carriers typically do not experience any symptoms.
Another name for this condition is autosomal recessive deafness 77 (DFNB77).
Resources:
Hearing Loss Association of America
National Association of the Deaf
Revised August 2022
