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

ABSTRACT: 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. Six of the corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate and several long-term advantages for patients and their families. However, the conventional genetic techniques, such as direct sequence analysis, are both time-consuming and expensive. Targeted exon sequencing of selected genes using the massively parallel DNA sequencing technology will potentially enable us to systematically tackle previously i

SUBMITTER: Yoshimura H 

PROVIDER: S-EPMC3949687 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature