identification of a novel wfs1 mutation using the whole exome sequencing in an iranian pedigree with autosomal dominant hearing loss

Introduction: sensorineural hearing loss is the most frequent type of hearing impairment in the human population. genetic factors account for over 60% of hearing loss in patients. this is a genetically heterogeneous sensorineural disorder. case report: we carried out whole exome sequencing (wes) to screen hearing loss candidate genes in a member of an iranian family with hearing loss. the sanger process was used to sequencing the variant in the family members. a novel mutation (c. 559c > t) was found in the wfs1 gene (in exon 5) in the patient leading to a heterozygous missense mutation (p.l187f). furthermore, it co-segregated with hl in the family. all affected individuals in the family had severe-to-profound hl. conclusion: this survey is the first to describe wfs1 related hl in the iranian population. our data propose that the wfs1-p.l187f mutation is the pathogenic variant for autosomal dominant nonsyndromic hearing loss. our results extend the range of the wfs1 gene mutations.