Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis
DC Field | Value | Language |
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dc.contributor.author | D'Souza, L. | - |
dc.contributor.author | Cukras, C. | - |
dc.contributor.author | Antolik, C. | - |
dc.contributor.author | Craig, C. | - |
dc.contributor.author | Lee, J.-Y. | - |
dc.contributor.author | He, H. | - |
dc.contributor.author | Li, S. | - |
dc.contributor.author | Smaoui, N. | - |
dc.contributor.author | Hejtmancik, J.F. | - |
dc.contributor.author | Sieving, P.A. | - |
dc.contributor.author | Wang, X. | - |
dc.date.accessioned | 2021-09-06T09:51:09Z | - |
dc.date.available | 2021-09-06T09:51:09Z | - |
dc.date.created | 2021-06-17 | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 1090-0535 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/105922 | - |
dc.description.abstract | Purpose: X-linked juvenile retinoschisis (XLRS) is a vitreoretinal dystrophy characterized by schisis (splitting) of the inner layers of the neuroretina. Mutations within the retinoschisis (RS1) gene are responsible for this disease. The mutation spectrum consists of amino acid substitutions, splice site variations, small indels, and larger genomic deletions. Clinically, genomic deletions are rarely reported. Here, we characterize two novel full exonic deletions: one encompassing exon 1 and the other spanning exons 4-5 of the RS1 gene. We also report the clinical findings in these patients with XLRS with two different exonic deletions. Methods: Unrelated XLRS men and boys and their mothers (if available) were enrolled for molecular genetics evaluation. The patients also underwent ophthalmologic examination and in some cases electroretinogram (ERG) recording. All the exons and the flanking intronic regions of the RS1 gene were analyzed with direct sequencing. Two patients with exonic deletions were further evaluated with array comparative genomic hybridization to define the scope of the genomic aberrations. After the deleted genomic region was identified, primer walking followed by direct sequencing was used to determine the exact breakpoints. Results: Two novel exonic deletions of the RS1 gene were identified: one including exon 1 and the other spanning exons 4 and 5. The exon 1 deletion extends from the 5′ region of the RS1 gene (including the promoter) through intron 1 (c.(-35)-1723_c.51+2664del4472). The exon 4-5 deletion spans introns 3 to intron 5 (c.185-1020_c.522+1844del5764). Conclusions: Here we report two novel exonic deletions within the RS1 gene locus. We have also described the clinical presentations and hypothesized the genomic mechanisms underlying these schisis phenotypes. © 2013 Molecular Vision. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.subject | retinoschisin | - |
dc.subject | 5&apos | - |
dc.subject | untranslated region | - |
dc.subject | adult | - |
dc.subject | article | - |
dc.subject | case report | - |
dc.subject | child | - |
dc.subject | clinical feature | - |
dc.subject | comparative genomic hybridization | - |
dc.subject | electroretinogram | - |
dc.subject | exon | - |
dc.subject | gene | - |
dc.subject | gene deletion | - |
dc.subject | genetic association | - |
dc.subject | genotype | - |
dc.subject | human | - |
dc.subject | nucleotide sequence | - |
dc.subject | ophthalmology | - |
dc.subject | phenotype | - |
dc.subject | priority journal | - |
dc.subject | promoter region | - |
dc.subject | retinoschisis | - |
dc.subject | rs1 gene | - |
dc.subject | school child | - |
dc.subject | X chromosome linked disorder | - |
dc.subject | x linked juvenile retinoschisis | - |
dc.subject | Child | - |
dc.subject | Chromosome Breakage | - |
dc.subject | Exons | - |
dc.subject | Eye Proteins | - |
dc.subject | Female | - |
dc.subject | Fundus Oculi | - |
dc.subject | Genetic Diseases, X-Linked | - |
dc.subject | Genetic Testing | - |
dc.subject | Humans | - |
dc.subject | Male | - |
dc.subject | Retinoschisis | - |
dc.subject | Sequence Deletion | - |
dc.subject | Tomography, Optical Coherence | - |
dc.title | Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Lee, J.-Y. | - |
dc.identifier.scopusid | 2-s2.0-84887272211 | - |
dc.identifier.bibliographicCitation | Molecular Vision, v.19, pp.2209 - 2216 | - |
dc.relation.isPartOf | Molecular Vision | - |
dc.citation.title | Molecular Vision | - |
dc.citation.volume | 19 | - |
dc.citation.startPage | 2209 | - |
dc.citation.endPage | 2216 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.subject.keywordPlus | retinoschisin | - |
dc.subject.keywordPlus | 5&apos | - |
dc.subject.keywordPlus | untranslated region | - |
dc.subject.keywordPlus | adult | - |
dc.subject.keywordPlus | article | - |
dc.subject.keywordPlus | case report | - |
dc.subject.keywordPlus | child | - |
dc.subject.keywordPlus | clinical feature | - |
dc.subject.keywordPlus | comparative genomic hybridization | - |
dc.subject.keywordPlus | electroretinogram | - |
dc.subject.keywordPlus | exon | - |
dc.subject.keywordPlus | gene | - |
dc.subject.keywordPlus | gene deletion | - |
dc.subject.keywordPlus | genetic association | - |
dc.subject.keywordPlus | genotype | - |
dc.subject.keywordPlus | human | - |
dc.subject.keywordPlus | nucleotide sequence | - |
dc.subject.keywordPlus | ophthalmology | - |
dc.subject.keywordPlus | phenotype | - |
dc.subject.keywordPlus | priority journal | - |
dc.subject.keywordPlus | promoter region | - |
dc.subject.keywordPlus | retinoschisis | - |
dc.subject.keywordPlus | rs1 gene | - |
dc.subject.keywordPlus | school child | - |
dc.subject.keywordPlus | X chromosome linked disorder | - |
dc.subject.keywordPlus | x linked juvenile retinoschisis | - |
dc.subject.keywordPlus | Child | - |
dc.subject.keywordPlus | Chromosome Breakage | - |
dc.subject.keywordPlus | Exons | - |
dc.subject.keywordPlus | Eye Proteins | - |
dc.subject.keywordPlus | Female | - |
dc.subject.keywordPlus | Fundus Oculi | - |
dc.subject.keywordPlus | Genetic Diseases, X-Linked | - |
dc.subject.keywordPlus | Genetic Testing | - |
dc.subject.keywordPlus | Humans | - |
dc.subject.keywordPlus | Male | - |
dc.subject.keywordPlus | Retinoschisis | - |
dc.subject.keywordPlus | Sequence Deletion | - |
dc.subject.keywordPlus | Tomography, Optical Coherence | - |
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