| identifier |
PRJDB4077 |
| type |
bioproject |
| sameAs |
|
| organism |
Homo sapiens
|
| title |
Frequency of Usher syndrome type 1 in deaf children using massively parallel DNA sequencing |
| description |
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. We screened unrelated non-syndromic deaf children and detected two mutations of USH1 causative genes in 5 patients. In this study, we showed the first report of the frequency of USH1 in deaf children by MPS and the importance of comprehensive genetic testing for diagnosing of USH among non-syndromic deaf children. 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/). |
| data type |
Genome Sequencing
|
| publication |
|
| properties ▽ |
{...}
|
| dbXrefs |
|
| distribution |
JSONJSON-LD
|
| Download |
|
| status |
public |
| visibility |
unrestricted-access |
| dateCreated |
2015-07-23T05:30:30+09:00 |
| dateModified |
2020-03-12T00:45:36+09:00 |
| datePublished |
2015-09-30T15:43:24+09:00 |