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De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with alport syndrome in ++++open accessDe novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

Other Titles
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Authors
Han, Kyoung HeePark, Jong EunKi, Chang-Seok
Issue Date
May-2019
Publisher
Korean Pediatric Society
Keywords
Alport syndrome; Child; Collagen type IV; Whole exome sequencing
Citation
Korean Journal of Pediatrics, v.62, no.5, pp.193 - 197
Indexed
SCOPUS
KCI
Journal Title
Korean Journal of Pediatrics
Volume
62
Number
5
Start Page
193
End Page
197
URI
https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/189559
DOI
10.3345/kjp.2018.06772
ISSN
1738-1061
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.
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