ArticleJournal of molecular medicine (Berlin, Germany)2013
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
Article in Journal of molecular medicine (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.Journal of the American Heart Association · 2018Pooled it
- Co-produced evidence-based recommendations for cascade screening and secondary prevention in the relatives of people diagnosed with non-syndromic thoracic aortic disease.Frontiers in cardiovascular medicine · 2026Article
- GMRSP encoded by lncRNA H19 regulates metabolic reprogramming and alleviates aortic dissection.Nature communications · 2025Article
- Case Report:Frontiers in genetics · 2025Article
- Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.Scientific reports · 2024Article
- Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.Orphanet journal of rare diseases · 2024Article
- Nanoscale Structural Comparison of Fibrillin-1 Microfibrils Isolated from Marfan and Non-Marfan Syndrome Human Aorta.International journal of molecular sciences · 2023Article
- Article
- Review
- Rare Variants and Polymorphisms ofFrontiers in genetics · 2022Article
- Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.Orphanet journal of rare diseases · 2021Review
- Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.Molecular genetics & genomic medicine · 2020Article
- Article
- Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.Molecular genetics & genomic medicine · 2019Article
- Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome.International journal of genomics · 2018Article
- Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.Scientific reports · 2017Article
- Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.BMC medical genetics · 2016Article
- Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.Scientific reports · 2015Article
- Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.Cardiovascular research · 2014Article
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Authors and funding
16 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Excessive activation of the transforming growth factor beta signaling pathway and disorganized cellular skeleton caused by genetic mutations are known to be responsible for the inherited thoracic aortic aneurysms and dissections (TAAD), a life-threatening vascular disease. To investigate the genotype-phenotype correlation, we screened genetic mutations of fibrillin-1 (FBN1), transforming growth factor-β receptor-1 (TGFBR1) and transforming growth factor-β receptor-2 (TGFBR2) for TAAD in 7 affected families and 22 sporadic patients. Of 19 potential mutations identified in FBN1, 11 appeared novel while the others were recurrent. Two mutations were detected in TGFBR2. Eight patients carried no mutation in either of these genes. Characterization of FBN1 c.5917+6T>C in transfected HEK293 cells demonstrated that it caused skipping of exon 47, leading to the loss of the 33th calcium binding epidermal growth factor-like domain associated with Marfan syndrome. Compared with exon 46, skipping of 47 did not cause patients ectopia lentis in all carriers. To correlate genotypes with phenotypes in different human ancestries, we reviewed the published mutational studies on FBN1 and found that the probability of cardiovascular defects were significantly increased in Chinese patients with premature termination codon or splicing mutations than those with missense mutations (91.7 % vs 54.2 %, P = 0.0307) or with noncysteine-involved point mutations than those with cysteine-involved mutations (88.9 % vs 33.3 %, P = 0.0131). Thus, we conclude that exon 47 skipping of FBN1 leads preferentially to cardiovascular defects and human ancestries influence genotype-phenotype correlation in TAAD.
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