Mutations in the gene coding for fibrillin on chromosome 15 (FBN1) are known to cause Marfan syndrome (MFS). A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus. We now describe ten novel mutations of FBN1 resulting in strikingly different phenotypes. In addition to classic MFS, FBN1 mutations also give rise to EL and a severe neonatal form of MFS. Interestingly, the neonatal MFS mutations are clustered in one particular region of FBN1, possibly providing new insights into genotype-phenotype comparisons.
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency
Identification of haemophilia B patients with mutations in the two calcium binding domains of factor IX: importance of a beta-OH Asp 64----Asn change
TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
Mutations altering the structure of epidermal growth factor-like coding sequences at the Drosophila Notch locus
Biologically active synthetic fragments of epidermal growth factor: localization of a major receptor-binding region
Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end
A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes
Prenatal and presymptomatic diagnosis of the Marfan syndrome using fluorescence PCR and an automated sequencer
Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample
Latent transforming growth factor-beta binding proteins (LTBPs)--structural extracellular matrix proteins for targeting TGF-beta action
Current insights in diagnosis and management of the cardiovascular complications of Marfan's syndrome
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene
Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects
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
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations
Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
Role played by Prx1-dependent extracellular matrix properties in vascular smooth muscle development in embryonic lungs
Lyso-globotriaosylceramide downregulates KCa3.1 channel expression to inhibit collagen synthesis in fibroblasts
Marfan syndrome and sudden death within a family - aetiologic, molecular and diagnostic issues at autopsy
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
Elastin fibers display a versatile microfibril network in articular cartilage depending on the mechanical microenvironments
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes
Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels
The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes
Platelet TGF-β1 contributions to plasma TGF-β1, cardiac fibrosis, and systolic dysfunction in a mouse model of pressure overload
Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome
Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome
Aortic and Cardiac Structure and Function Using High-Resolution Echocardiography and Optical Coherence Tomography in a Mouse Model of Marfan Syndrome
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation
Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis
The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1
Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and marfan syndrome : A statement for healthcare professionals from the councils on clinical cardiology, cardiovascular disease in the young, and basic science, american heart association
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations
Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum
Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding
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