Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Abstract Hearing impairment is characterized by great genetic heterogeneity. We report the identification, by whole exome sequencing, of two different nonsense mutations(c.1558C>T; p.Gln520* and c.2773C>T; p.Arg925*) in the otogelin-like gene ( OTOGL ), in a child affected by mild to moderate isolated deafness. Parental genotypes allowed us to conclude that these mutations are present in the compound heterozygous state in the patient. In addition, our clinical data establish that the tectorial membraneand/or the outer hair cellsare defective in this form of deafness.