ArticleMolecular genetics & genomic medicine2019
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Familial Thoracic Aortic Aneurysm and Dissection: Simultaneous Presentation in Two Brothers.Cureus · 2025Article
- Ten-year follow-up study of a young woman with loeys-dietz syndrome: a case report.Journal of cardiothoracic surgery · 2023Article
- Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.European journal of human genetics : EJHG · 2023Article
- Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThoracic aortic aneurysms and dissections (TAAD) may have a heritable cause in up to 20% of cases. We aimed to investigate the pathogenic effect of a TGFBR1 mutation in relation to TAAD.
methodsCo-segregation analysis was performed followed by functional investigations, including myogenic transdifferentiation.
resultsThe c.1043G>A TGFBR1 mutation was found in the index patient, in a deceased brother, and in five presymptomatic family members. Evidence for pathogenicity was found by the predicted damaging effect of this mutation and the co-segregation in the family. Functional analysis with myogenic transdifferentiation of dermal fibroblasts to smooth muscle-like cells, revealed increased myogenic differentiation in patient cells with the TGFBR1 mutation, shown by a higher expression of myogenic markers ACTA2, MYH11 and CNN1 compared to cells from healthy controls.
conclusionOur findings confirm the pathogenic effect of the TGFBR1 mutation in causing TAAD in Loeys-Dietz syndrome and show increased myogenic differentiation of patient fibroblasts.
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