FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Marfan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Here we report the first mutation (G2950A) in exon 24 of the neonatal region of the FBN1 gene, associated with a classic MfS phenotype. 10694921 1998
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. 9401003 1997
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1) in a compound-heterozygote Marfan syndrome (MFS) child who had a very severe form of MFS resulting in death from cardiac failure at the age of 4 mo. 7977366 1994
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT 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. 22772377 2013
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT A third family cosegregates mild mitral valve prolapse syndrome with a mutation in FBN1 that can be functionally distinguished from those associated with the classic MFS phenotype. 9837823 1998
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. 10425041 1999
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785 2009
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT The Marfan syndrome, an autosomal dominant heritable disorder of connective tissue, is caused by mutations in the gene for fibrillin-1, FBN1. 9254848 1997
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT This mutation identifies a putative site for profibrillin to fibrillin processing, and is associated with isolated skeletal features of the Marfan syndrome, indicating that the FBN1 gene is one of the genes that determines height in the general population. 7738200 1995
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene. 8882780 1996
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT To explore this possibility, firstly we analyzed FBN1 allelic variants in 12 Japanese patients with MFS, and secondly we analyzed fibrillin-3 gene ( FBN3) in patients without FBN1 mutations using conformation sensitive gel electrophoresis (CSGE) and direct sequencing analysis. 15221638 2004
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. 8863159 1996
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Previously, mutations in the fibrillin-1 gene on chromosome 15 (FBN1) have been reported to cause MFS. 8281141 1993
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. 1569206 1992
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Interestingly, the neonatal MFS mutations are clustered in one particular region of FBN1, possibly providing new insights into genotype-phenotype comparisons. 8136837 1994
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT On the basis of the data presented here and in a previous study, we were able to establish highly significant correlations between the FBN1 mutation type and the MFS phenotype in a group of 76 mutation-positive patients for whom comprehensive clinical data were available. 16220557 2005
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome. 8040326 1994
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT A new missense mutation of fibrillin in a patient with Marfan syndrome. 8071963 1994
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Diagnostic criteria for MFS were fulfilled in 94 patients, 62 (66%) of whom had an FBN1 mutation. 11700157 2001
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT In conclusion, we were able to detect FBN1 mutations in 88% of patients with MFS and in 36% of patients with other fibrillinopathies type I, confirming that FBN1 mutations are good predictors of classic MFS. 18435798 2008
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS. 9016526 1997
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. 21542060 2011
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. 7951214 1994
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. 10441597 1999
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation disease UNIPROT Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. 1852208 1991