Mutation screening using this technique has the power to quickly identify mutations of many causative genes while maintaining cost-benefit performance. This is the first report of Usher syndrome mutation analysis using massively parallel DNA sequencing and the frequency of Usher syndrome type 1 genes in Japanese. We report here four patients, who had probable pathogenic mutations in two different Usher syndrome type 1 genes, and one case of MYO7A/ PCDH15 digenic inheritance. Most of the mutations were detected by only the massively parallel DNA sequencing. Seven patients had the MYO7A mutation (41.2%), which is the most common type in Japanese. Using this technique combined with direct sequence analysis, we screened 17 unrelated Usher syndrome type 1 patients and detected probable pathogenic variants in the 16 of them (94.1%) who carried at least one mutation. Targeted exon sequencing of selected genes using the massively parallel DNA sequencing technology will potentially enable us to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. However, the conventional genetic techniques, such as direct sequence analysis, are both time-consuming and expensive. 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. 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. Epub 2004 Mar 10.Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Syndrome type 2A (USH2A) gene that encode multiple conserved functional domainsĪnd that are mutated in patients with Usher syndrome type II. Identification of 51 novel exons of the Usher
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