De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with alport syndrome in ++++
DC Field | Value | Language |
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dc.contributor.author | Han, Kyoung Hee | - |
dc.contributor.author | Park, Jong Eun | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.date.accessioned | 2023-08-22T03:20:51Z | - |
dc.date.available | 2023-08-22T03:20:51Z | - |
dc.date.created | 2023-07-10 | - |
dc.date.issued | 2019-05 | - |
dc.identifier.issn | 1738-1061 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/189559 | - |
dc.description.abstract | Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and autosomal dominant ATS. About 80% of patients with ATS have X-linked ATS, which is caused by mutations in the type IV collagen α5 chain gene, COL4A5. Although an 80% mutation detection rate is observed in men with X-linked ATS, some difficulties do exist in the genetic diagnosis of ATS. Most mutations are point mutations without hotspots in the COL4A3, COL4A4, and COL4A5 genes. Further, there are insufficient data on the detection of COL4A3 and COL4A4 mutations for their comparison between patients with autosomal recessive or dominant ATS. Therefore, diagnosis of ATS in female patients with no apparent family history can be challenging. Therefore, in this study, we used whole-exome sequencing (WES) to identify mutations in type IV collagen in 2 girls with glomerular basement membrane structural changes suspected to be associated with ATS; these patients had no relevant family history. Our results revealed de novo c.4688G>A (p.Arg1563Gln) and c.2714G>A (p.Gly905Asp) mutations in COL4A5. Therefore, we suggest that WES is an effective approach to obtain genetic information in ATS, particularly in female patients without a relevant family history, to detect unexpected DNA variations. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | Korean Pediatric Society | - |
dc.title | De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with alport syndrome in ++++ | - |
dc.title.alternative | De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Park, Jong Eun | - |
dc.identifier.doi | 10.3345/kjp.2018.06772 | - |
dc.identifier.scopusid | 2-s2.0-85067976438 | - |
dc.identifier.bibliographicCitation | Korean Journal of Pediatrics, v.62, no.5, pp.193 - 197 | - |
dc.relation.isPartOf | Korean Journal of Pediatrics | - |
dc.citation.title | Korean Journal of Pediatrics | - |
dc.citation.volume | 62 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 193 | - |
dc.citation.endPage | 197 | - |
dc.type.rims | ART | - |
dc.type.docType | 정기학술지(Article(Perspective Article포함)) | - |
dc.identifier.kciid | ART002465824 | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.subject.keywordPlus | Alport syndrome | - |
dc.subject.keywordPlus | Article | - |
dc.subject.keywordPlus | astigmatism | - |
dc.subject.keywordPlus | case report | - |
dc.subject.keywordPlus | child | - |
dc.subject.keywordPlus | clinical article | - |
dc.subject.keywordPlus | COL4A3 gene | - |
dc.subject.keywordPlus | COL4A4 gene | - |
dc.subject.keywordPlus | COL4A5 gene | - |
dc.subject.keywordPlus | electron microscopy | - |
dc.subject.keywordPlus | female | - |
dc.subject.keywordPlus | follow up | - |
dc.subject.keywordPlus | gene | - |
dc.subject.keywordPlus | gene frequency | - |
dc.subject.keywordPlus | gene mutation | - |
dc.subject.keywordPlus | genetic analysis | - |
dc.subject.keywordPlus | genetic variability | - |
dc.subject.keywordPlus | glomerulus basement membrane | - |
dc.subject.keywordPlus | hematuria | - |
dc.subject.keywordPlus | heterozygote | - |
dc.subject.keywordPlus | human | - |
dc.subject.keywordPlus | human tissue | - |
dc.subject.keywordPlus | kidney biopsy | - |
dc.subject.keywordPlus | Korea | - |
dc.subject.keywordPlus | occult blood | - |
dc.subject.keywordPlus | proteinuria | - |
dc.subject.keywordPlus | Sanger sequencing | - |
dc.subject.keywordPlus | school child | - |
dc.subject.keywordPlus | scoliosis | - |
dc.subject.keywordPlus | urinalysis | - |
dc.subject.keywordPlus | whole exome sequencing | - |
dc.subject.keywordPlus | X chromosome linked disorder | - |
dc.subject.keywordAuthor | Alport syndrome | - |
dc.subject.keywordAuthor | Child | - |
dc.subject.keywordAuthor | Collagen type IV | - |
dc.subject.keywordAuthor | Whole exome sequencing | - |
dc.identifier.url | https://www.e-cep.org/journal/view.php?doi=10.3345/kjp.2018.06772 | - |
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