Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. Homo sapiens

Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. In this study we applied targeted exon re-sequencing of selected genes using the massively parallel DNA sequencing technology to improve molecular diagnosis. The Data Access Committee of the National Bioscience Database Center (NBDC) approved that this personal genetic data were made published according to NBDC data sharing guidelines (http://humandbs.biosciencedbc.jp/).