Deafness, Autosomal Recessive 77 (LOXHD1)

Deafness, autosomal recessive 77 is an autosomal recessive disease caused by pathogenic variants in the gene LOXHD1. Due to the presence of a founder mutation, it is more common in individuals of Ashkenazi Jewish descent, although it has also been reported in patients of other ethnicities. The age of onset and extent of hearing loss varies among families; in some families, severe to profound hearing loss is present at birth and does not progress over time, whereas in other families the age of onset is during childhood and progresses to more severe hearing loss in adulthood. To date, a genotype-phenotype correlation has not been established. Life expectancy is normal.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):