Homozygous LOXHD1 Nonsense Mutation (c.1787G>A; p.W596X) is Associated with Hearing Loss in an Iranian Family: A Case Report

Abstract

Hereditary hearing loss is the most common sensory neural disorder, which has been revealed to have high genetic heterogeneity. Herein, we aimed to figure out the underlying genetics of the subject from an Iranian deaf family. Next-generation sequencing (NGS) of all known hearing loss genes was carried out in the proband of the family, followed by a cosegregation analysis of all members of the family. We recognized a novel homozygous pathogenic nonsense mutation, NM_001145472: c.1787G>A; p.W596X, in the LOXHD1 gene, and Sanger sequencing verified that this mutation segregated with the ARNSHL in the family. Our study showed a contribution of LOXHD1 variants to the NSHL in Iranian patients and provided a better understanding of the mutation spectrum of deafness in the Iranian population. Also, the present investigation supports the application of genetic testing in the clinical diagnosis and genetic counseling of deafness.