Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 박종은 | - |
dc.date.accessioned | 2021-05-07T01:09:21Z | - |
dc.date.available | 2021-05-07T01:09:21Z | - |
dc.date.issued | 2019-05 | - |
dc.identifier.citation | MOLECULAR GENETICS & GENOMIC MEDICINE, v. 7, no. 5, article no. e620 | en_US |
dc.identifier.issn | 2324-9269 | - |
dc.identifier.uri | https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.620 | - |
dc.identifier.uri | https://repository.hanyang.ac.kr/handle/20.500.11754/161910 | - |
dc.description.abstract | Background: Bicuspid aortic valve (BAV) is the most common congenital heart defect with a prevalence of 1%-2% in the general population. NOTCH1, SMAD6, and GATA5 are associated with BAV in humans, but few cases have been reported that did not involve NOTCH1. Here, we identified novel in-frame variants in SMAD6 (c.1168_1173dup; p.Gly390_Ile391dup) in a BAV patient, who presented with dilatation of the ascending aorta and severe calcification of the aortic valve. Methods: Twenty BAV associated genes were screened by exome sequencing. Functional effects of SMAD6 variant were investigated using bone morphogenetic protein (BMP) signaling assays through in vitro functional study. Results: Exome sequencing revealed he had novel in-frame variants in the SMAD6 gene (c.1168_1173dup; p.Gly390_Ile391dup). SMAD6 is known to be an inhibitory protein in the BMP signaling pathway. In vitro functional study of the p.Gly390_Ile391dup variant revealed impaired inhibition of BMP signaling and BMP-induced alkaline phosphatase activity. Conclusion: In conclusion, we identified a novel SMAD6 variant causing a severely calcified BAV and TAA, which contributes to our understanding of the clinical and genetic background of SMAD6-related BAV. | en_US |
dc.language.iso | en | en_US |
dc.publisher | WILEY | en_US |
dc.subject | bicuspid aortic valve | en_US |
dc.subject | SMAD6 | en_US |
dc.subject | whole exome sequencing | en_US |
dc.title | A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm | en_US |
dc.type | Article | en_US |
dc.relation.no | 5 | - |
dc.relation.volume | 7 | - |
dc.identifier.doi | 10.1002/mgg3.620 | - |
dc.relation.page | 620-620 | - |
dc.relation.journal | MOLECULAR GENETICS & GENOMIC MEDICINE | - |
dc.contributor.googleauthor | Park, Jong Eun | - |
dc.contributor.googleauthor | Park, Jin Seok | - |
dc.contributor.googleauthor | Jang, Shin Yi | - |
dc.contributor.googleauthor | Park, Seok Hee | - |
dc.contributor.googleauthor | Kim, Jong‐Won | - |
dc.contributor.googleauthor | Ki, Chang‐Seok | - |
dc.contributor.googleauthor | Kim, Duk‐Kyung | - |
dc.relation.code | 2019038964 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | jongeun820 | - |
dc.identifier.orcid | https://orcid.org/0000-0001-9131-6518 | - |
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