Cited 5 times in
Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 최재영 | - |
dc.date.accessioned | 2015-01-06T17:08:23Z | - |
dc.date.available | 2015-01-06T17:08:23Z | - |
dc.date.issued | 2014 | - |
dc.identifier.issn | 0301-4851 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/99412 | - |
dc.description.abstract | The EYA1 gene is known as the causative gene of BOR (Branchio-oto-renal) syndrome which is a genetic disorder associated with branchial cleft cysts of fistulae, hearing loss, ear malformation, and renal anomalies. Although approximately 40 % of patients with BOR syndrome have mutations in the EYA1 gene and over 130 disease-causing mutations in EYA1 have been reported in various populations, only a few mutations have been reported in Korean families. In this study, genetic analysis of the EYA1 gene was performed in a Korean patient diagnosed with BOR syndrome and his parents. A de novo novel missense mutation, c.418G>A, located at the end of exon 6, changed glycine to serine at amino acid position 140 (p.G140S) and was suspected to affect normal splicing. Our in vitro splicing assay demonstrated that this mutation causes exon 6 skipping leading to frameshift and truncation of the protein to result in the loss of eyaHR. To the best of our knowledge, this is the first report revealing that a missense mutation in the exon disturbs normal splicing as a result of a substitution of the last nucleotide of an exon in EYA1. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 4321~4327 | - |
dc.relation.isPartOf | MOLECULAR BIOLOGY REPORTS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Amino Acid Substitution | - |
dc.subject.MESH | Asian Continental Ancestry Group | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | Branchio-Oto-Renal Syndrome/genetics* | - |
dc.subject.MESH | Branchio-Oto-Renal Syndrome/pathology | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | DNA Mutational Analysis | - |
dc.subject.MESH | Exons* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Intracellular Signaling Peptides and Proteins/genetics* | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Molecular Sequence Data | - |
dc.subject.MESH | Mutation, Missense* | - |
dc.subject.MESH | Nuclear Proteins/genetics* | - |
dc.subject.MESH | Pedigree | - |
dc.subject.MESH | Protein Tyrosine Phosphatases/genetics* | - |
dc.subject.MESH | RNA Splice Sites* | - |
dc.title | Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Otorhinolaryngology (이비인후과학) | - |
dc.contributor.googleauthor | Hui Ram Kim | - |
dc.contributor.googleauthor | Mee Hyun Song | - |
dc.contributor.googleauthor | Min-A Kim | - |
dc.contributor.googleauthor | Ye-Ri Kim | - |
dc.contributor.googleauthor | Kyu-Yup Lee | - |
dc.contributor.googleauthor | Jong Kyung Sonn | - |
dc.contributor.googleauthor | Jaetae Lee | - |
dc.contributor.googleauthor | Jae Young Choi | - |
dc.contributor.googleauthor | Un-Kyung Kim | - |
dc.identifier.doi | 10.1007/s11033-014-3303-6 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A04173 | - |
dc.relation.journalcode | J02249 | - |
dc.identifier.eissn | 1573-4978 | - |
dc.identifier.pmid | 24590738 | - |
dc.identifier.url | http://link.springer.com/article/10.1007%2Fs11033-014-3303-6 | - |
dc.contributor.alternativeName | Choi, Jae Young | - |
dc.contributor.affiliatedAuthor | Choi, Jae Young | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 41 | - |
dc.citation.number | 7 | - |
dc.citation.startPage | 4321 | - |
dc.citation.endPage | 4327 | - |
dc.identifier.bibliographicCitation | MOLECULAR BIOLOGY REPORTS, Vol.41(7) : 4321-4327, 2014 | - |
dc.identifier.rimsid | 39411 | - |
dc.type.rims | ART | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.