Mutational Spectrums and Clinical Features of Patients with LOXHD1 Variants Identified in a 8,074 Hearing Loss Patient Cohort.

Variants of LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was conducted on 8,074 Japanese hearing loss patients utilizing the massively parallel DNA sequencing, to identify individuals with LOXHD1 variants and to assess their phenotypes. 28 affected individuals and 21 LOXHD1 variants were identified, among which 13 were novel variants.

• Type: Case Set
• Archiver: Japanese Genotype-phenotype Archive (JGA)