In case 27419 diagnosed with Usher syndrome, we identified compound heterozygous missense variants in HARS. Variant c.262 G > A:p.Gly88Ser was novel while the second mutation c.410 G > A:p.Arg137Gln has been shown to cause loss of function using yeast complementation assays and was associated with peripheral neuropathy23. The gene discussed is HARS1; the disease is Usher syndrome.