|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In patient 2, the novel NM_004612.2 (TGFBR1): c.1225T > G; p.(Trp409Gly) likely pathogenic variant was found, allowing for a diagnosis of LDS type 1.
|
31326520 |
2019 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.
|
31475485 |
2019 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Clinical features were scored for each distinct gene and matched with literature data to strengthen genotype-phenotype correlations such as more severe vascular manifestations in <i>TGFBR1/2</i>-related LDS.
|
31569402 |
2019 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3).
|
29350460 |
2018 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
|
30219046 |
2018 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in both TGFBR1/2 genes have been described in patients with TAA/D and Marfan syndrome (MFS), and they are associated consistently with Loeys-Dietz syndrome.
|
28847661 |
2018 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling.
|
29392890 |
2018 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
|
30513140 |
2018 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a Japanese familial case of LDS with a novel splice donor site variant in TGFBR1 gene (c.973 + 1 G > A; NG_007461.1).
|
29706644 |
2018 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
|
27879313 |
2016 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
|
26888179 |
2016 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing of 10 patients with features of Loeys-Dietz syndrome.
|
26877057 |
2016 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.
|
26848186 |
2016 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
|
25644172 |
2015 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex-matched control patients with Marfan syndrome carrying a FBN1 mutation.
|
24344637 |
2014 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We generated 2 knockin mouse strains with LDS mutations in either Tgfbr1 or Tgfbr2 and a transgenic mouse overexpressing mutant Tgfbr2.
|
24355923 |
2014 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder caused by mutations in the transforming growth factor β (TGF-β) receptors TGFBR1 or TGFBR2.
|
25116393 |
2014 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we present the medical history and surgical management of a patient with Loeys-Dietz syndrome type I caused by a mutation in M253I in the TGFBR1 gene who received complete aortic replacement and various peripheral vascular surgeries over the course of 25 years.
|
24792298 |
2014 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loeys-Dietz syndrome (LDS) is a connective tissue disorder caused by monoallelic mutations in TGFBR1 and TGFBR2, which encode for subunits of the transforming growth factor beta (TGFβ) receptor.
|
24333532 |
2014 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
SMAD3 mutations should be considered in patients of all ages with LDS-like phenotypes and negative TGFBR1/2 molecular tests, especially in the presence of aortic root or ascending aortic aneurysms, even though signs of early onset osteoarthritis are absent.
|
23554019 |
2013 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that patients with Loeys-Dietz syndrome (LDS), an autosomal dominant disorder caused by mutations in the genes encoding receptor subunits for TGFβ, TGFBR1 and TGFBR2, are strongly predisposed to develop allergic disease, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal disease.
|
23884466 |
2013 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder caused by heterozygous mutations in the genes encoding transforming growth factor beta receptor 1 or 2 (TGFBR1 or TGFBR2).
|
22095581 |
2012 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
|
22772368 |
2012 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
|
22113417 |
2012 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loeys-Dietz syndrome (LDS) results from mutations in the TGFBR1 or TGFBR2 genes and is known to cause aggressive cardiovascular disease, including aortic aneurysms and dissections at an early age.
|
20956634 |
2011 |